Clinico-Hematological Profile of Hb Q India: An Uncommon Hemoglobin Variant (original) (raw)
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Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-β-thalassemia
Indian journal of clinical biochemistry : IJCB, 2010
Hemoglobin Q- India (alpha) 64 Asp → His is an alpha chain variant which is generally found in heterozygous state and presents normal hematological blood picture. Here we report a rare case of HbQ-India with a thalassemic phenotype that has been analyzed using a combination of mass spectrometry, gene sequencing and PCR analysis. This combined analyses revealed the HbQ variant to be associated with a beta chain mutation, IVS 1-1 [G>T]. Though HbQ has earlier been reported with thalassemic trait using different techniques, this is the first report of a compound α and β chain Hb heterozygous mutant involving HbQ and IVS1-1 being validated using Mass Spectrometry and Reverse dot blot hybridization.
Hb Q - India: An uncommon hemoglobin variant diagnosed in two patients
2014
Hemoglobin Q-India (α 64 Asp→His) is an important member of the hemoglobin Q family, molecularly characterized by the replacement of aspartic acid by histidine. The first case of Hb Q India was reported by Sukumaran in 1972 in a Sindhi family with associated β known as a country with a high prevalence of α hemoglobinopathy. Many of these variants are yet to be identified. Here, we are reporting two cases of Hb Q- India diagnosed during premarital thalas
Clinical and hematological presentation among Indian patients with common hemoglobin variants
Clinica Chimica Acta, 2014
Co-inheritance of structural hemoglobin variants like HbS, HbD(Punjab) and HbE can lead to a variable clinical presentation and only few cases have been described so far in the Indian population. We present the varied clinical and hematological presentation of 22 cases (HbSD(Punjab) disease-15, HbSE disease-4, HbD(Punjab)E disease-3) referred to us for diagnosis. Two of the 15 HbSD(Punjab) disease patients had moderate crisis, one presented with mild hemolytic anemia; however, the other 12 patients had a severe clinical presentation with frequent blood transfusion requirements, vaso occlusive crisis, avascular necrosis of the femur and febrile illness. The 4 HbSE disease patients had a mild to moderate presentation. Two of the 3 HbD(Punjab)E patients were asymptomatic with one patient's sibling having a mild presentation. The hemoglobin levels of the HbSD(Punjab) disease patients ranged from 2.3 to 8.5 g/dl and MCV from 76.3 to 111.6 fl. The hemoglobin levels of the HbD(Punjab)E and HbSE patients ranged from 10.8 to 11.9 and 9.8 to 10.0 g/dl whereas MCV ranged from 67.1 to 78.2 and 74.5 to 76.0 fl respectively. HbSD(Punjab) disease patients should be identified during newborn screening programmes and managed in a way similar to sickle cell disease. Couple at risk of having HbSD(Punjab) disease children may be given the option of prenatal diagnosis in subsequent pregnancies.
Spectrum of Hemoglobinopathies in West Bengal, India: A CE-HPLC Study on 10407 Subjects
Indian Journal of Hematology and Blood Transfusion, 2014
Hemoglobinopathies are common genetic disorders of haemoglobin. Identification of these disorders is immensely important epidemiologically and they can be prevented by population screening. The present study was carried out to evaluate the spectrum of hemoglobinopathies in the state of West Bengal by the cation-exchange highperformance liquid chromatography (CE-HPLC). A retrospective, single-center, cross-sectional study was conducted on consecutive 10,407 participants. Out of 10,407 subjects, 8,898 (85.5 %) were diagnosed as normal, 579 (5.6 %) were as b-thalassemia trait (BTT) and 522 (5.0 %) were detected as HbE carrier on HPLC study. Apart from BTT and HbE carrier ten additional variants were encountered. The present study showed that CE-HPLC is a convenient, high-throughput, labour-saving and objective screening tool for early detection and management of hemoglobinopathies. Keywords b-Thalassemia trait Á High performance liquid chromatography Á Screening Á Haemoglobin A 2 Á West Bengal
Hemoglobin Disorders in South India
ISRN Hematology, 2011
Cation exchange-high performance liquid chromatography (CE-HPLC) is increasingly being used as a first line of investigation for hemoglobinopathies and thalassemias. Together with a complete blood count, the CE-HPLC is effective in categorizing hemoglobinopathies as traits, homozygous disorders and compound heterozygous disorders. We carried out a one year study in Apollo Hospitals, Chennai (Tamil Nadu, South India) during which 543 abnormal chromatogram patterns were seen. The commonest disorder we encountered wasβ-thalassemia trait (37.9%), followed by HbE trait (23.2%), homozygous HbE disease (18.9%), HbS trait (5.3%), HbEβ-thalassemia (4.6%), HbSβ-thalassemia (2.5%),β-thalassemia major (2.3%), HbH (1.6%), homozygous HbS (1.4%), HbD trait (0.7%). The average value of HbA2 inβ-thalassemia minor was 5.4%.β-thalassemia major had an average HbF of 88% and in HbH the mean A2 was 1.4%. Among the HbE disorders the HbA2 + HbE was 30.1% in the heterozygous state, 90.8% in the homozygous s...
A Rare Case Of Co-Existent Hb Q India-Beta Thalassemia Trait
The Internet Journal of Hematology, 2007
Hb Q-India is a rare alpha chain variant and usually it presents in the heterozygous state. It's presence along with beta thalassemia trait again adds to its rarity. Such a rare entity can be diagnosed by careful screening in routine practice with the use of the techniques like Hb electrophoresis, Solubility test. We report a case of Hb Q in a concomitant presence of Beta thalassemia trait.
Journal of laboratory physicians
Hemoglobinopathies constitute the world's most common genetically inherited red blood cell disorder. Screening and accurate identification of hemoglobin (Hb) variants have become increasingly important in antenatal diagnosis and prevention of Hb disorders. The aim of this study was to screen and identify Hb fractions prevalent in the Central Reference Laboratory of India. A total of 65,779 cases were screened for hemoglobinopathies on the bio-rad variant high-performance liquid chromatography (HPLC) system by beta-thalassemia short program. The retention times, proportion of the hemoglobin (%) and the peak characteristics for all hemoglobin fractions were recorded. Molecular analysis of the beta-globin gene was carried out by DNA sequencing on eight cases. Total number of abnormal Hb fractions on cation exchange-HPLC (CE-HPLC) was seen in 12,131 (18.44%) cases. Beta-thalassemia trait was the predominant genetic Hb disorder accounting for 7377 cases (11.21%) of the total cases. T...
Five Rare β Globin Chain Hemoglobin Variants in India
Indian Journal of Hematology and Blood Transfusion, 2016
Thalassemias as well as structural hemoglobin (Hb) variants are common monogenic inherited disorders of Hb in India. In this paper we describe 5 rare b-chain Hb variants identified in the Indian population on the basis of high performance liquid chromatography (HPLC). Of these 3 were identified during antenatal screening of b-thalassemia while the other 2 cases were referred to us for a diagnostic work up. These 5 Hb variants were Hb British Columbia (b CD 101 GAG ? AAG), Hb Saint Louis (b CD28 CTG ? CAG), Hb G Coushatta (b CD 22 GAA ? GCA), Hb Pyrgos (b CD 83 GGC ? GAC) and Hb Agenogi (b CD 90 GAG ? AAG). Hb Saint Louis and Hb G Coushatta eluted in the HbA 2 window, Hb British Columbia and Hb Agenogi eluted in the Hb C window while Hb Pyrgos eluted in an unknown window on HPLC. They were all identified by DNA sequencing. The child having Hb St. Louis had hepatosplenomegaly and anemia while the individuals with the other 4 variants were asymptomatic. Rare Hb variants are diagnostic curiosities that may be encountered by laboratories. Correct identification requires the application of more than one technique to avoid misdiagnosing them as more common variants (e.g. St. Louis and G Coushatta as E or D Iran on HPLC. Some, like G Coushatta may interfere with HPLC-based HbA1c estimation).
Detection of Abnormal Hemoglobin Variants by HPLC Method: Common Problems with Suggested Solutions
International Scholarly Research Notices
Thalassemia and thalassemic hemoglobinopathies pose serious health problem leading to severe morbidity and mortality in Indian population. Plethora of hemoglobin variants is prevalent in multiethnic Indian population. The aim of the present study was to analyze laboratory aspects, namely, hematological profile and HPLC findings of the hemoglobin variants detected, and to discuss problems that we faced in diagnosis in a routine clinical laboratory. We screened a total of 4800 cases in a hospital based population of North India in a 2-years period of by automated HPLC method using the Variant Hemoglobin Testing System (Variant II Beta Thalassemia Short Program, Bio-Rad Laboratories) under the experimental conditions specified by the manufacturer. Whole blood in EDTA was used and red cell indices were determined using automated hematology analyzer. We detected 290 cases with abnormal variants in which beta thalassemia was the most common followed by hemoglobin E. Here, we discuss the laboratory aspects of various hemoglobin disorders and diagnostic difficulties in cases like borderline HbA2 values, presence of silent mutation, alpha thalassemia gene, and few rare variants which at times require correlation with genetic study. Special attention was given to HbA2 level even in presence of a structural variant to rule out coinheritance of beta thalassemia gene.
BACKGROUND Thalassaemias and haemoglobinopathies are highly prevalent in India. Identification of these disorders is important for epidemiologic purposes and for prevention of thalassaemia major and clinically severe haemoglobinopathies. The use of high performance liquid chromatography (HPLC) as a screening method for detection of these groups of disorder is increasing in last two decades. The aim is to study of thalassaemias and haemoglobinopathies using high performance liquid chromatography as a diagnostic tool in patients of a tertiary care hospital of Odisha. METHODS AND MATERIALS A total of 788 cases were included in the study. Samples were analysed on the BIO-RAD D-10 TM dual mode HPLC system. Personal history, family history, peripheral blood findings and sickling test result were correlated. Family studies were done whenever required and possible. However, secondary confirmatory tests were not done. Statistical analysis was done on Microsoft Excel. Continuous variables were expressed as mean ± SD. Categorical variables were expressed as frequencies and percentages. RESULTS Abnormal HPLC patterns were seen in 37.18% of cases. Sickle cell heterozygous (15.10%), sickle cell homozygous (9.90%) and β-thalassaemia trait (6.10%) were the most common abnormalities found. Other patterns detected include β-thalassaemia major and intermedia, compound heterozygous state of HbS and β-thalassaemia, HbE trait, HbE disease, double heterozygous state of HbS and HbE, HbE and β-thalassaemia and HbS and hereditary persistent of foetal haemoglobin, HbD Punjab trait, Hb Lepore trait and HbH disease. CONCLUSION Sickle cell along with β-thalassaemias are the major abnormal haemoglobins in Odisha. Premarital and antenatal screenings are important measures to prevent birth of children with severe haemoglobin disorders. HPLC is a rapid and reliable technique for identification of various haemoglobin fractions.