Rahimah Ahmad - Academia.edu (original) (raw)

Papers by Rahimah Ahmad

Research paper thumbnail of Rare cause of transfusion‐dependent hemolytic anemia: A case report of HbE/Hb Nottingham and literature review

Pediatric Blood & Cancer, 2022

Research paper thumbnail of Delta-Globin Gene Mutations Complicate the Diagnosis of β-Thalassemia

Increased Hemoglobin A2 (HbA2) levels are used as invaluable markers for the detection of beta-th... more Increased Hemoglobin A2 (HbA2) levels are used as invaluable markers for the detection of beta-thalassemia (β-thalassemia) carriers. However, a concomitant delta-globin gene (HBD) mutation reduces the HbA2 level resulting in the confusion of the β-thalassemia status. Objectives: We sought to identify HBD mutations leading to low HbA2 level β-thalassemia carriers receiving the molecular diagnosis at the Institute for Medical Research (IMR), Malaysia. Methods: Thirty-seven β-thalassemia carriers were ruled out of alpha-thalassemia (α-thalassemia) and underwent HBD genotyping by Sanger sequencing. Results: Twenty-two β-thalassemia carriers with HBD mutations were identified. The most common mutations were HbA2-Indonesia and HbA2-Deventer. The HbA2-Deventer was found in ethnics from Sabah. Two new δ-globin mutations, Cap +48 (A>T) and HbA2-Shah Alam were identified among the Malays. Altogether, we identified seven δ-globin gene mutations. Relying upon HbA2 levels for β-thalassemia ca...

Research paper thumbnail of Coinheritance of Beta Thalassaemia (β0 Filipino) and Delta Variant (HbA2 Deventer) in Sabahan Population: A Case Series

Mutations in the δ globin gene are not pathologically significant [1]. However, coinheritance of ... more Mutations in the δ globin gene are not pathologically significant [1]. However, coinheritance of β and δ thalassaemia can mask the diagnosis of β thalassaemia trait as it causes HbA 2 level to be lowered [2,3]. Here, we reported 5 unrelated cases of compound heterozygous β 0 Filipino ~ 45 kb deletion and codon 67 (GTG>ATG) HbA2 Deventer in Sabahan population. Cases of β°-thalassemia traits with unusual low HbA 2 were reviewed. These cases were initially referred to our laboratory for definitive diagnosis of β-thalassemia trait. Haematological parameters and Hb analysis were carried out at the referral hospital. Genomic DNA was extracted from the peripheral blood. Multiplex ARMS and Gap PCR were done to detect common point mutations and deletions for both alpha and beta globin genes. Sanger sequencing was performed to detect mutations in delta globin gene. Patients’ consist of 4 males and 1 female aged between 25-38 years old. All of them are indigenous Sabahan (2 Kadazans, 1 Muru...

Research paper thumbnail of DNA ploidy analysis on lymphoma using archival paraffin tissue section

Research paper thumbnail of Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait

Malaysian journal of …, 2009

Introduction: HbE is the commonest beta haemoglobin (Hb) variant in Southeast Asia. It causes a r... more Introduction: HbE is the commonest beta haemoglobin (Hb) variant in Southeast Asia. It causes a reduction in synthesis of the beta-globin E chain. Studies indicate HbE coinherited with a-thalassaemia leads to milder clinical phenotype. This study investigates ...

Research paper thumbnail of Thalassaemia screening among healthy blood donors in Hospital Tengku Ampuan Rahimah, Klang

Thalassaemia screening programme has been conducted in Malaysia since 2004. The aim of the progra... more Thalassaemia screening programme has been conducted in Malaysia since 2004. The aim of the programme was to reduce the burden of the disease by identifying thalassaemia carriers. However, the response towards the screening activities was unsatisfactory as there was lack of public awareness against the importance of thalassaemia screening. An alternative approach is to screen blood donors. The purpose of this study was to observe the prevalence of thalassaemia carriers among healthy blood donors. Seven hundred and thirty eight healthy blood donors were screened in Hospital Tengku Ampuan Rahimah, Klang from July to September 2010 using cation-exchange high performance liquid chromatography (HPLC). Cases with haemoglobin variants were further analyzed by gel electrophoresis at alkaline pH. Result shows that the blood donors consisted of 413 Malays (56%), 162 Indians (22%), 148 Chinese (20%) and 15 others (2%). There were 19 (2.6%) individuals with haemoglobin E trait, six (0.8%) with c...

Research paper thumbnail of Detection of β-globin Gene Mutations Among β-thalassaemia Carriers and Patients in Malaysia: Application of Multiplex Amplification Refractory Mutation System-Polymerase Chain Reaction

Malaysian Journal of Medical Sciences, 2013

β-thalassaemia is one of the most common single-gene disorders worldwide. Each ethnic population ... more β-thalassaemia is one of the most common single-gene disorders worldwide. Each ethnic population has its own common mutations, accounting for the majority of cases, with a small number of mutations for the rarer alleles. Due to the heterogeneity of β-thalassaemia and the multi-ethnicity of Malaysians, molecular diagnostics may be expensive and time consuming. A simple polymerase chain reaction (PCR) approach involving a multiplex amplification refractory mutation system (MARMS) and one amplification refractory mutation system (ARMS), consisting of 20 β-globin gene mutations, were designed and employed to investigate β-thalassaemia patients and carriers. Out of 169 carriers tested with the MARMS, Cd 41/42 (-TTCT), Cd 26 (A-G) HbE, IVS 1-1 (G-T), and IVS 1-5 (G-C) were the most common mutations, accounting for 78.1%. Among the Malays, Cd 26 (A-G) HbE, Cd 41/42 (-TTCT), IVS 1-1 (G-T), and IVS 1-5 (G-C) were the most common mutations, accounting for 81.4%, whereas Cd 41/42 (-TTCT) and I...

Research paper thumbnail of β-Thalassaemia Major Malay Patient with Compound Heterozygosity for IVS 1-5 (G>C) Mutation and IVS-1 25bp Deletion: Case Report

Journal of Blood Disorders & Transfusion, 2015

IVS-1 25bp deletion in the β-globin gene is rare entity in South East Asia region. We report the ... more IVS-1 25bp deletion in the β-globin gene is rare entity in South East Asia region. We report the first case of βthalassaemia major in a Malay girl from Malaysia with IVS-1 25bp deletion heterozygously compounded with IVS 1-5 (G>C) consensus mutation. Clinical presentation and molecular diagnostic procedures was described. Molecular diagnosis of rare and emerging thalassaemia alleles can be challenging. Sequence haplotype analysis using classical SNP markers for the family members suggest the IVS-1 25bp deletion probably was derived from Middle East.

Research paper thumbnail of Molecular Characterization of α- and β-Thalassaemia among Malay Patients

Both α-and β-thalassaemia syndromes are public health problems in the multi-ethnic population of ... more Both α-and β-thalassaemia syndromes are public health problems in the multi-ethnic population of Malaysia. To molecularly characterise the α-and β-thalassaemia deletions and mutations among Malays from Penang, Gap-PCR and multiplexed amplification refractory mutation systems were used to study 13 α-thalassaemia determinants and 20 β-thalassaemia mutations in 28 and 40 unrelated Malays, respectively. Four α-thalassaemia deletions and mutations were demonstrated. −− SEA deletion and α CS α accounted for more than 70% of the α-thalassaemia alleles. Out of the 20 β-thalassaemia alleles studied, nine different β-thalassaemia mutations were identified of which β E accounted for more than 40%. We concluded that the highest prevalence of (α-and β-thalassaemia alleles in the Malays from Penang are −− SEA deletion and β E mutation, respectively.

Research paper thumbnail of Prevalence of 3.7 and 4.2 Deletions in Sudanese Patients with Red Cells Hypochromia and Microcytosis

Objective: Alpha-thalassemia is a genetic disorder characterized by deletions of one or more α gl... more Objective: Alpha-thalassemia is a genetic disorder characterized by deletions of one or more α globin genes that result in deficient of α globin chains reducing haemoglobin concentration. The study aimed to screen 97 patients with microcytosis and hypochromasia for the 3.7 and 4.2 alpha thalassemia deletion mutations. Results: Out of 97 patients screened, only 7 were carriers for the 3.7 deletion and all patients were negative for the 4.2 deletion. The 3.7 deletion was found in Foor, Hawsa and Rezagat Sudanese tribes. In the carriers of the 3.7 deletion, Red Blood Cells and Haematocrit were significantly increased. The Red Blood Cells were 7.23±0.78×10 12 /L in adult males and 7.21±0.67×10 12 /L in adult females while in children were 5.07±0.87×10 12 /L. The mean cell volume and mean cell haemoglobin were significantly decreased, but the mean cell haemoglobin concentration slightly decreased. Haemoglobin levels didn’t revealed statistically significant decrease in adult males (11.7±...

Research paper thumbnail of Coinheritance of Southeast Asian ovalocytosis and the β-thalassemia trait in a Malay family

Asian Biomedicine

Background: Southeast Asian ovalocytosis (SAO) is a red blood cell membrane disorder caused by a ... more Background: Southeast Asian ovalocytosis (SAO) is a red blood cell membrane disorder caused by a 27 base pair (bp) deletion in the SLC4A1 that transcribes to a truncated variant of band-3 glycoprotein. β-Thalassemia is another red blood cell disorder, caused by mutant alleles in the β-globin gene that lead to globin chain impairment. Both conditions occur in Southeast Asian countries, including Malaysia.Objectives: This report describes hematological and molecular features of a patient with both SAO and β-thalassemia and her children.Methods: A 58-year-old Malay woman presented to our clinic with dizziness, tiredness, and easy fatigability. She was mildly anaemic. Analysis of her complete blood counts and her peripheral blood smear revealed microcytic hypochromic anaemia with large numbers of macro-ovalocytes and stomatocytes.Results: Hemoglobin and globin gene studies revealed heterozygous β-thalassemia, and further analysis demonstrated a heterozygous 27 bp deletion on the SLC4A1 ...

Research paper thumbnail of Molecular Characterisation of α- and β-Thalassaemia among Indigenous Senoi Orang Asli Communities in Peninsular Malaysia

Annals of human genetics, Jan 16, 2017

Thalassaemia is a public health problem in Malaysia, with each ethnic group having their own comm... more Thalassaemia is a public health problem in Malaysia, with each ethnic group having their own common mutations. However, there is a lack on data on the prevalence and common mutations among the indigenous people. This cross-sectional study was performed to determine the common mutations of α- and β-thalassaemia among the subethnic groups of Senoi, the largest Orang Asli group in Peninsular Malaysia. Blood samples collected from six Senoi subethnic groups were analysed for full blood count and haemoglobin analysis (HbAn). Samples with abnormal findings were then screened for α- and β-globin gene mutations. Out of the 752 samples collected, 255 showed abnormal HbAn results, and 122 cases showing abnormal red cell indices with normal HbAn findings were subjected to molecular screening. DNA analysis revealed a mixture of α- and β-globin gene mutations with 25 concomitant cases. The types of gene abnormalities detected for α-thalassaemia were termination codon (T>C) Hb CS (α(CS) α), Cd...

Research paper thumbnail of First Two Cases of Fungal Infections Associated with Multi-drug Resistant Yeast, Fereydounia khargensis

Mycopathologia, 2016

The number of new fungal pathogens is increasing due to growing population of immunocompromised p... more The number of new fungal pathogens is increasing due to growing population of immunocompromised patients and advanced identification techniques. Fereydounia khargensis is a yeast and was first described in 2014 from environmental samples. As far as we know, this is the first report of human infections associated with F. khargensis. The yeasts were isolated from blood of a HIV-positive patient and pleural fluid of chronic renal failure patient. Amplification and sequencing of the internal transcribed spacer and the large subunit regions confirmed the identity of the isolates. Both isolates showed multidrug resistance to antifungal agents tested.

Research paper thumbnail of A novel single gene deletion (-αMAL3.5) giving rise to silent α thalassemia carrier removing the entire HBA2 gene observed in two Chinese patients with Hb H disease: case report of two probands

Thalassemia Reports, 2015

We report a novel deletion at the HBA2 presented with Hb H disease in two Malaysian-Chinese patie... more We report a novel deletion at the HBA2 presented with Hb H disease in two Malaysian-Chinese patients. The two unrelated probands were diagnosed with Hb H disease in a primary hematological screening for thalassemia. Results from routine molecular analysis with gap-polymerase chain reaction (PCR) method revealed a genotype asynchrony with the observed clinical presentation. Subsequent DNA analysis using a battery of molecular methods such as gap-PCR, multiplex ligation dependent probe amplification, DNA sequencing, confirmed the presence of a novel deletion in both the index cases removing the entire a2 globin gene. We have designated the deletion as (-a MAL3.5). Hematological indices and clinical findings suggest that the deletion has an a + phenotype. The molecular process of this deletion is the result from misalignment and unequal crossover event between the duplicated homologous Y-boxes within the a globin gene cluster. Uncharacterized deletions, single nucleotide polymorphism and other nucleotide indels at the primer binding sites may impede the optimum condition for its annealing and extension and therefore may invalidate the gap-PCR obscuring the real genotype.

Research paper thumbnail of Haemoglobin sickle d punjab: - a case report

The Medical journal of Malaysia

Haemoglobin S D-Punjab is a rare compound heterozygous haemoglobinopathy characterised by the pre... more Haemoglobin S D-Punjab is a rare compound heterozygous haemoglobinopathy characterised by the presence of two β globin gene variants: Β6(GAG→GTG) and Β121(GAA→CAA). These patients' clinical and haematological features mimic haemoglobin S disease. We describe the first case of doubly heterozygous HbSD-Punjab from Malaysia managed with regular blood transfusion at the age of one. This case highlights the propensity for occurrence of rare phenotypes within our multi-ethnic population and emphasises the importance of accurate genotyping to avoid erroneous counselling, and to plan an effective patient management strategy before complication evolves.

Research paper thumbnail of A Rare Case of Compound Heterozygous Haemoglobin Q-Thailand and Haemoglobin Adana

We report a 15-year-old Malay girl who since the age of five required infrequent blood transfusio... more We report a 15-year-old Malay girl who since the age of five required infrequent blood transfusions. However over the past 10 years, her transfusion requirements increased due to symptomatic anaemia. Currently, she has become transfusion dependent. Her peripheral blood film was consistent with severe haemolytic anaemia and the H-inclusion test was negative. Her mother, who was 36-week pregnant, also had features of haemolytic anaemia (haemoglobin, Hb: 8.5 g/dl) but in a milder form. Her father had normal Hb level but raised red cell count. Both parents had negative H-inclusion test. Hb subtyping by cation exchange high performance liquid chromatography and capillary electrophoresis only revealed presence of Hb variant in the father and the daughter. The abnormal peak appeared at retention time 4.62 seconds (25.6%) and zone 7 (28.2%) in the father. Similar findings were observed in the daughter, but with lesser values (retention time 4.58 seconds, 15.1% and zone 7, 19.1%). Multiplex ...

Research paper thumbnail of Screening of Concurrent a-Thalassaemia 1 ~-Thalassaemia Carriers @BULLET In

Research paper thumbnail of Screening of concurrent alpha-thalassaemia 1 in beta-thalassaemia carriers

The Medical journal of Malaysia

Thalassaemia is an inherited blood disorder and is a significant public health problem in Malaysi... more Thalassaemia is an inherited blood disorder and is a significant public health problem in Malaysia, with many not knowing they carry the gene for thalassaemia. The two major forms are alpha and beta thalassaemia. An individual can co-inherit both the alpha and beta thalassaemia genes. This study determined the frequency of concurrent carriers of alpha thalassaemia in 231 beta thalassaemia carriers. Gap-PCR was done on extracted DNA of the beta thalassaemia samples to check for alpha thalassaemia 1 molecular defect. Eight (3.5%) samples were found to have concurrently inherited the alpha thalassaemia 1 (- -SEA) deletion. The significant carrier rate for alpha thalassaemia 1 indicates the need for the implementation of DNA analysis to complement thalassaemia screening in high risk populations.

Research paper thumbnail of A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for alpha(+)-thalassaemia and a mutation in alpha1 globin gene CD59 (GGC --> GAC)

The Medical journal of Malaysia

A rare case of thalassaemia-intermedia involving a non-deletion alpha thalassemia point mutation ... more A rare case of thalassaemia-intermedia involving a non-deletion alpha thalassemia point mutation in the alpha1-globin gene CD59 (GGC --> GAC) and a deletion alpha+ (-alpha(3.7)) thalassaemia in which use of high performance liquid chromatography (HPLC) C-gram Hb subtype profile and DNA molecular analysis helped establish the diagnosis.

Research paper thumbnail of Screening of Concurrent a-Thalassaemia 1 in b-Thalassaemia Carriers

Thalassaemia is an inherited blood disorder and is a significant public health problem in Malaysi... more Thalassaemia is an inherited blood disorder and is a significant public health problem in Malaysia, with many not knowing they carry gene for thalassaemia. The two major forms are alpha and beta thalassaemia. An individual can co-inherit both the alpha and beta thalassaemia genes. This study determined the frequency of cincurrent carriers of alpha thalassaemia in 231 beta thalassaemia carriers. Gap-PCR was done on extracted DNA of the beta thalassaemia samples to check for alpha thalassaemia 1 molecular defect. Eight (3.5%) samples were found to have concurrently inherited the alpha thalassaemia 1 deletion. The significant carrier rare for alpha thalassaemia 1 indicates the need for the implementation of DNA analysis to complement thalassaemia screening in high risk populations.

Research paper thumbnail of Rare cause of transfusion‐dependent hemolytic anemia: A case report of HbE/Hb Nottingham and literature review

Pediatric Blood & Cancer, 2022

Research paper thumbnail of Delta-Globin Gene Mutations Complicate the Diagnosis of β-Thalassemia

Increased Hemoglobin A2 (HbA2) levels are used as invaluable markers for the detection of beta-th... more Increased Hemoglobin A2 (HbA2) levels are used as invaluable markers for the detection of beta-thalassemia (β-thalassemia) carriers. However, a concomitant delta-globin gene (HBD) mutation reduces the HbA2 level resulting in the confusion of the β-thalassemia status. Objectives: We sought to identify HBD mutations leading to low HbA2 level β-thalassemia carriers receiving the molecular diagnosis at the Institute for Medical Research (IMR), Malaysia. Methods: Thirty-seven β-thalassemia carriers were ruled out of alpha-thalassemia (α-thalassemia) and underwent HBD genotyping by Sanger sequencing. Results: Twenty-two β-thalassemia carriers with HBD mutations were identified. The most common mutations were HbA2-Indonesia and HbA2-Deventer. The HbA2-Deventer was found in ethnics from Sabah. Two new δ-globin mutations, Cap +48 (A>T) and HbA2-Shah Alam were identified among the Malays. Altogether, we identified seven δ-globin gene mutations. Relying upon HbA2 levels for β-thalassemia ca...

Research paper thumbnail of Coinheritance of Beta Thalassaemia (β0 Filipino) and Delta Variant (HbA2 Deventer) in Sabahan Population: A Case Series

Mutations in the δ globin gene are not pathologically significant [1]. However, coinheritance of ... more Mutations in the δ globin gene are not pathologically significant [1]. However, coinheritance of β and δ thalassaemia can mask the diagnosis of β thalassaemia trait as it causes HbA 2 level to be lowered [2,3]. Here, we reported 5 unrelated cases of compound heterozygous β 0 Filipino ~ 45 kb deletion and codon 67 (GTG>ATG) HbA2 Deventer in Sabahan population. Cases of β°-thalassemia traits with unusual low HbA 2 were reviewed. These cases were initially referred to our laboratory for definitive diagnosis of β-thalassemia trait. Haematological parameters and Hb analysis were carried out at the referral hospital. Genomic DNA was extracted from the peripheral blood. Multiplex ARMS and Gap PCR were done to detect common point mutations and deletions for both alpha and beta globin genes. Sanger sequencing was performed to detect mutations in delta globin gene. Patients’ consist of 4 males and 1 female aged between 25-38 years old. All of them are indigenous Sabahan (2 Kadazans, 1 Muru...

Research paper thumbnail of DNA ploidy analysis on lymphoma using archival paraffin tissue section

Research paper thumbnail of Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait

Malaysian journal of …, 2009

Introduction: HbE is the commonest beta haemoglobin (Hb) variant in Southeast Asia. It causes a r... more Introduction: HbE is the commonest beta haemoglobin (Hb) variant in Southeast Asia. It causes a reduction in synthesis of the beta-globin E chain. Studies indicate HbE coinherited with a-thalassaemia leads to milder clinical phenotype. This study investigates ...

Research paper thumbnail of Thalassaemia screening among healthy blood donors in Hospital Tengku Ampuan Rahimah, Klang

Thalassaemia screening programme has been conducted in Malaysia since 2004. The aim of the progra... more Thalassaemia screening programme has been conducted in Malaysia since 2004. The aim of the programme was to reduce the burden of the disease by identifying thalassaemia carriers. However, the response towards the screening activities was unsatisfactory as there was lack of public awareness against the importance of thalassaemia screening. An alternative approach is to screen blood donors. The purpose of this study was to observe the prevalence of thalassaemia carriers among healthy blood donors. Seven hundred and thirty eight healthy blood donors were screened in Hospital Tengku Ampuan Rahimah, Klang from July to September 2010 using cation-exchange high performance liquid chromatography (HPLC). Cases with haemoglobin variants were further analyzed by gel electrophoresis at alkaline pH. Result shows that the blood donors consisted of 413 Malays (56%), 162 Indians (22%), 148 Chinese (20%) and 15 others (2%). There were 19 (2.6%) individuals with haemoglobin E trait, six (0.8%) with c...

Research paper thumbnail of Detection of β-globin Gene Mutations Among β-thalassaemia Carriers and Patients in Malaysia: Application of Multiplex Amplification Refractory Mutation System-Polymerase Chain Reaction

Malaysian Journal of Medical Sciences, 2013

β-thalassaemia is one of the most common single-gene disorders worldwide. Each ethnic population ... more β-thalassaemia is one of the most common single-gene disorders worldwide. Each ethnic population has its own common mutations, accounting for the majority of cases, with a small number of mutations for the rarer alleles. Due to the heterogeneity of β-thalassaemia and the multi-ethnicity of Malaysians, molecular diagnostics may be expensive and time consuming. A simple polymerase chain reaction (PCR) approach involving a multiplex amplification refractory mutation system (MARMS) and one amplification refractory mutation system (ARMS), consisting of 20 β-globin gene mutations, were designed and employed to investigate β-thalassaemia patients and carriers. Out of 169 carriers tested with the MARMS, Cd 41/42 (-TTCT), Cd 26 (A-G) HbE, IVS 1-1 (G-T), and IVS 1-5 (G-C) were the most common mutations, accounting for 78.1%. Among the Malays, Cd 26 (A-G) HbE, Cd 41/42 (-TTCT), IVS 1-1 (G-T), and IVS 1-5 (G-C) were the most common mutations, accounting for 81.4%, whereas Cd 41/42 (-TTCT) and I...

Research paper thumbnail of β-Thalassaemia Major Malay Patient with Compound Heterozygosity for IVS 1-5 (G>C) Mutation and IVS-1 25bp Deletion: Case Report

Journal of Blood Disorders & Transfusion, 2015

IVS-1 25bp deletion in the β-globin gene is rare entity in South East Asia region. We report the ... more IVS-1 25bp deletion in the β-globin gene is rare entity in South East Asia region. We report the first case of βthalassaemia major in a Malay girl from Malaysia with IVS-1 25bp deletion heterozygously compounded with IVS 1-5 (G>C) consensus mutation. Clinical presentation and molecular diagnostic procedures was described. Molecular diagnosis of rare and emerging thalassaemia alleles can be challenging. Sequence haplotype analysis using classical SNP markers for the family members suggest the IVS-1 25bp deletion probably was derived from Middle East.

Research paper thumbnail of Molecular Characterization of α- and β-Thalassaemia among Malay Patients

Both α-and β-thalassaemia syndromes are public health problems in the multi-ethnic population of ... more Both α-and β-thalassaemia syndromes are public health problems in the multi-ethnic population of Malaysia. To molecularly characterise the α-and β-thalassaemia deletions and mutations among Malays from Penang, Gap-PCR and multiplexed amplification refractory mutation systems were used to study 13 α-thalassaemia determinants and 20 β-thalassaemia mutations in 28 and 40 unrelated Malays, respectively. Four α-thalassaemia deletions and mutations were demonstrated. −− SEA deletion and α CS α accounted for more than 70% of the α-thalassaemia alleles. Out of the 20 β-thalassaemia alleles studied, nine different β-thalassaemia mutations were identified of which β E accounted for more than 40%. We concluded that the highest prevalence of (α-and β-thalassaemia alleles in the Malays from Penang are −− SEA deletion and β E mutation, respectively.

Research paper thumbnail of Prevalence of 3.7 and 4.2 Deletions in Sudanese Patients with Red Cells Hypochromia and Microcytosis

Objective: Alpha-thalassemia is a genetic disorder characterized by deletions of one or more α gl... more Objective: Alpha-thalassemia is a genetic disorder characterized by deletions of one or more α globin genes that result in deficient of α globin chains reducing haemoglobin concentration. The study aimed to screen 97 patients with microcytosis and hypochromasia for the 3.7 and 4.2 alpha thalassemia deletion mutations. Results: Out of 97 patients screened, only 7 were carriers for the 3.7 deletion and all patients were negative for the 4.2 deletion. The 3.7 deletion was found in Foor, Hawsa and Rezagat Sudanese tribes. In the carriers of the 3.7 deletion, Red Blood Cells and Haematocrit were significantly increased. The Red Blood Cells were 7.23±0.78×10 12 /L in adult males and 7.21±0.67×10 12 /L in adult females while in children were 5.07±0.87×10 12 /L. The mean cell volume and mean cell haemoglobin were significantly decreased, but the mean cell haemoglobin concentration slightly decreased. Haemoglobin levels didn’t revealed statistically significant decrease in adult males (11.7±...

Research paper thumbnail of Coinheritance of Southeast Asian ovalocytosis and the β-thalassemia trait in a Malay family

Asian Biomedicine

Background: Southeast Asian ovalocytosis (SAO) is a red blood cell membrane disorder caused by a ... more Background: Southeast Asian ovalocytosis (SAO) is a red blood cell membrane disorder caused by a 27 base pair (bp) deletion in the SLC4A1 that transcribes to a truncated variant of band-3 glycoprotein. β-Thalassemia is another red blood cell disorder, caused by mutant alleles in the β-globin gene that lead to globin chain impairment. Both conditions occur in Southeast Asian countries, including Malaysia.Objectives: This report describes hematological and molecular features of a patient with both SAO and β-thalassemia and her children.Methods: A 58-year-old Malay woman presented to our clinic with dizziness, tiredness, and easy fatigability. She was mildly anaemic. Analysis of her complete blood counts and her peripheral blood smear revealed microcytic hypochromic anaemia with large numbers of macro-ovalocytes and stomatocytes.Results: Hemoglobin and globin gene studies revealed heterozygous β-thalassemia, and further analysis demonstrated a heterozygous 27 bp deletion on the SLC4A1 ...

Research paper thumbnail of Molecular Characterisation of α- and β-Thalassaemia among Indigenous Senoi Orang Asli Communities in Peninsular Malaysia

Annals of human genetics, Jan 16, 2017

Thalassaemia is a public health problem in Malaysia, with each ethnic group having their own comm... more Thalassaemia is a public health problem in Malaysia, with each ethnic group having their own common mutations. However, there is a lack on data on the prevalence and common mutations among the indigenous people. This cross-sectional study was performed to determine the common mutations of α- and β-thalassaemia among the subethnic groups of Senoi, the largest Orang Asli group in Peninsular Malaysia. Blood samples collected from six Senoi subethnic groups were analysed for full blood count and haemoglobin analysis (HbAn). Samples with abnormal findings were then screened for α- and β-globin gene mutations. Out of the 752 samples collected, 255 showed abnormal HbAn results, and 122 cases showing abnormal red cell indices with normal HbAn findings were subjected to molecular screening. DNA analysis revealed a mixture of α- and β-globin gene mutations with 25 concomitant cases. The types of gene abnormalities detected for α-thalassaemia were termination codon (T>C) Hb CS (α(CS) α), Cd...

Research paper thumbnail of First Two Cases of Fungal Infections Associated with Multi-drug Resistant Yeast, Fereydounia khargensis

Mycopathologia, 2016

The number of new fungal pathogens is increasing due to growing population of immunocompromised p... more The number of new fungal pathogens is increasing due to growing population of immunocompromised patients and advanced identification techniques. Fereydounia khargensis is a yeast and was first described in 2014 from environmental samples. As far as we know, this is the first report of human infections associated with F. khargensis. The yeasts were isolated from blood of a HIV-positive patient and pleural fluid of chronic renal failure patient. Amplification and sequencing of the internal transcribed spacer and the large subunit regions confirmed the identity of the isolates. Both isolates showed multidrug resistance to antifungal agents tested.

Research paper thumbnail of A novel single gene deletion (-αMAL3.5) giving rise to silent α thalassemia carrier removing the entire HBA2 gene observed in two Chinese patients with Hb H disease: case report of two probands

Thalassemia Reports, 2015

We report a novel deletion at the HBA2 presented with Hb H disease in two Malaysian-Chinese patie... more We report a novel deletion at the HBA2 presented with Hb H disease in two Malaysian-Chinese patients. The two unrelated probands were diagnosed with Hb H disease in a primary hematological screening for thalassemia. Results from routine molecular analysis with gap-polymerase chain reaction (PCR) method revealed a genotype asynchrony with the observed clinical presentation. Subsequent DNA analysis using a battery of molecular methods such as gap-PCR, multiplex ligation dependent probe amplification, DNA sequencing, confirmed the presence of a novel deletion in both the index cases removing the entire a2 globin gene. We have designated the deletion as (-a MAL3.5). Hematological indices and clinical findings suggest that the deletion has an a + phenotype. The molecular process of this deletion is the result from misalignment and unequal crossover event between the duplicated homologous Y-boxes within the a globin gene cluster. Uncharacterized deletions, single nucleotide polymorphism and other nucleotide indels at the primer binding sites may impede the optimum condition for its annealing and extension and therefore may invalidate the gap-PCR obscuring the real genotype.

Research paper thumbnail of Haemoglobin sickle d punjab: - a case report

The Medical journal of Malaysia

Haemoglobin S D-Punjab is a rare compound heterozygous haemoglobinopathy characterised by the pre... more Haemoglobin S D-Punjab is a rare compound heterozygous haemoglobinopathy characterised by the presence of two β globin gene variants: Β6(GAG→GTG) and Β121(GAA→CAA). These patients' clinical and haematological features mimic haemoglobin S disease. We describe the first case of doubly heterozygous HbSD-Punjab from Malaysia managed with regular blood transfusion at the age of one. This case highlights the propensity for occurrence of rare phenotypes within our multi-ethnic population and emphasises the importance of accurate genotyping to avoid erroneous counselling, and to plan an effective patient management strategy before complication evolves.

Research paper thumbnail of A Rare Case of Compound Heterozygous Haemoglobin Q-Thailand and Haemoglobin Adana

We report a 15-year-old Malay girl who since the age of five required infrequent blood transfusio... more We report a 15-year-old Malay girl who since the age of five required infrequent blood transfusions. However over the past 10 years, her transfusion requirements increased due to symptomatic anaemia. Currently, she has become transfusion dependent. Her peripheral blood film was consistent with severe haemolytic anaemia and the H-inclusion test was negative. Her mother, who was 36-week pregnant, also had features of haemolytic anaemia (haemoglobin, Hb: 8.5 g/dl) but in a milder form. Her father had normal Hb level but raised red cell count. Both parents had negative H-inclusion test. Hb subtyping by cation exchange high performance liquid chromatography and capillary electrophoresis only revealed presence of Hb variant in the father and the daughter. The abnormal peak appeared at retention time 4.62 seconds (25.6%) and zone 7 (28.2%) in the father. Similar findings were observed in the daughter, but with lesser values (retention time 4.58 seconds, 15.1% and zone 7, 19.1%). Multiplex ...

Research paper thumbnail of Screening of Concurrent a-Thalassaemia 1 ~-Thalassaemia Carriers @BULLET In

Research paper thumbnail of Screening of concurrent alpha-thalassaemia 1 in beta-thalassaemia carriers

The Medical journal of Malaysia

Thalassaemia is an inherited blood disorder and is a significant public health problem in Malaysi... more Thalassaemia is an inherited blood disorder and is a significant public health problem in Malaysia, with many not knowing they carry the gene for thalassaemia. The two major forms are alpha and beta thalassaemia. An individual can co-inherit both the alpha and beta thalassaemia genes. This study determined the frequency of concurrent carriers of alpha thalassaemia in 231 beta thalassaemia carriers. Gap-PCR was done on extracted DNA of the beta thalassaemia samples to check for alpha thalassaemia 1 molecular defect. Eight (3.5%) samples were found to have concurrently inherited the alpha thalassaemia 1 (- -SEA) deletion. The significant carrier rate for alpha thalassaemia 1 indicates the need for the implementation of DNA analysis to complement thalassaemia screening in high risk populations.

Research paper thumbnail of A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for alpha(+)-thalassaemia and a mutation in alpha1 globin gene CD59 (GGC --> GAC)

The Medical journal of Malaysia

A rare case of thalassaemia-intermedia involving a non-deletion alpha thalassemia point mutation ... more A rare case of thalassaemia-intermedia involving a non-deletion alpha thalassemia point mutation in the alpha1-globin gene CD59 (GGC --> GAC) and a deletion alpha+ (-alpha(3.7)) thalassaemia in which use of high performance liquid chromatography (HPLC) C-gram Hb subtype profile and DNA molecular analysis helped establish the diagnosis.

Research paper thumbnail of Screening of Concurrent a-Thalassaemia 1 in b-Thalassaemia Carriers

Thalassaemia is an inherited blood disorder and is a significant public health problem in Malaysi... more Thalassaemia is an inherited blood disorder and is a significant public health problem in Malaysia, with many not knowing they carry gene for thalassaemia. The two major forms are alpha and beta thalassaemia. An individual can co-inherit both the alpha and beta thalassaemia genes. This study determined the frequency of cincurrent carriers of alpha thalassaemia in 231 beta thalassaemia carriers. Gap-PCR was done on extracted DNA of the beta thalassaemia samples to check for alpha thalassaemia 1 molecular defect. Eight (3.5%) samples were found to have concurrently inherited the alpha thalassaemia 1 deletion. The significant carrier rare for alpha thalassaemia 1 indicates the need for the implementation of DNA analysis to complement thalassaemia screening in high risk populations.