A comparative study of hematological parameters of α and β thalassemias in a high prevalence zone: Saudi Arabia (original) (raw)
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Hematological Characterization of Beta Thalassemia in Sudanese Patients
Haematology International Journal, 2020
Thalassemia is common inherited disorder among humans, and they represent a major public health problem in many areas of the world. The study aimed to measurement of hematological characterization of beta thalassemia in Sudanese patients. Blood samples from 61 beta thalassemic patients were collected after written consent form obtained from all participants. The frequency of Adults (>18 years) were 45 (73.8%), and Children's (<18 years), were 16 (26.2%) the frequency of male was 27 (44.3%) and 34 were females (55.7%). Hemoglobin estimation and red cell indices were carried out using the automatic blood cell counter Sysmex KX21N. The results showed Hb and RBCs indices were vared between mild to moderate and severe decreasing, Hemoglobin concentration (Hb) with the mean value of 9.6 g/dL, with minimum value of 6.1g/dL and maximum of 11.9g/dL, while RBCs was increased in all patients, mean value 5.2c/L, Mean corpuscular volume (MCV) mean was 58.9 fL, hematocrit was 30.4, mean corpuscular hemoglobin (MCH) 18.8 pg, mean corpuscular hemoglobin concentration (MCHC) was 31.7pg and RDW was 18.8%. The method used for hemoglobin electrophoresis was cappilary electrophoresis, Hb pattern shows increased HbA2 and HbF, the mean of HbA is 78.3%, HbF is 2.3%, and HbA2 is 6.5% with the min value of 3.6% and max of 12.2%. While the mean of serum iron was 82.75ug/dL, 7 patients showed low level, 19 high level and 35 was normal level. Comparison of hematological analysis (HbA2) in thalassemic patients coexisted with Iron deficiency and without result was insignificant difference (p = 0.645) this result disagree with references that say iron deficiency masking HbA2. Nevertheless the association between HbA2 and HbF revealed a statistically significant difference (p<.013) and HbA2 with Hb was insignificant (p =.260).
Prevalence of Thalassemia Traits in People without Anemia or Microcytosis
Journal of Hematology and Transfusion Medicine, 2014
The mean corpuscular volume (MCV) lower than 80 fL is always used as one clue for screening thalassemia/hemoglobinopathy. Objective: To survey the alpha-thalassemia-1, beta-thalassemia and hemoglobinopathy in the individuals who have normal hemoglobin (Hb) concentration and normal MCV. Materials and Methods: The participants with normal Hb level and normal MCV randomly selected from the physically normal people are investigated for Hb typing and PCR for alpha-thalassemia-1 genotyping. Results: From 152 participants, there are no alpha-thalassemia-1 trait (SEA and Thai types), 24 Hb E traits (15.8 %), 3 Hb Constant-Spring traits (2.0%) and 1 beta thalassemia trait (0.6%) Conclusion: The alpha-thalassemia-1 can be excluded in people with normal Hb concentration and normal MCV.
The Indonesian Biomedical Journal, 2022
Being located in the global thalassemia belt area, Indonesia is estimated harboring about 10% thalassemia carriers; however, screening program is still diversely scattered across the country. Numerous erythrocyte indices have been introduced to help identifying thalassemia carriers with contradictory results. Therefore, this study had compared the use of mean corpuscular volume (MCV) and/or mean corpuscular hemoglobin (MCH) values and the most erythrocyte indices used in Indonesia which were Mentzer Index (MI) and Shine & Lal Index (SLI), as a first attempt in a mass screening for β-thalassemia carrier. METHODS: This was a retrospective study, evaluating laboratory data from family members of thalassemia major subjects. The sensitivity and specificity of MI and SLI were calculated. HbA2 >3.5% was used as a golden standard for β-thalassemia carrier and DNA examination was conducted to confirm β-globin mutation.
Frequency of Beta Thalassemia Trait Among the Healthy Individuals - a Single Centre Study
2018
Objective: To determine the frequency of beta thalassemia trait among the asymptomatic healthy individuals. Study Design: Cross sectional study. Place and Duration of Study: This was carried out at Pakistan Air Force (PAF) Hospital Lahore from Jan 2016 to Jun 2017. Patients and Methods: The subjects were both male and female who came from all over Pakistan for central medical board for selection in Pakistan Air Force. Their ages were between 18 and 28 years. Their complete blood counts were measured on Sysmex KX 21 hematology analyzer. Candidates with microcytic hypochromic indices without anaemia were screened for beta thalassemia trait. Haemoglobin (Hb) electrophoresis was done on cellulose acetate paper at alkaline PH. HbA2 estimation was done by measuring the absorbance of elute on spectrophotometer. Beta thalassemia was diagnosed if the subject had HbA2 more than 3.5%. The data was analyzed using statistical package for social sciences (SPSS) software version 17. Results: A tot...
Bali Medical Journal, 2019
Background: Thalassemia is an autosomal recessive disease. It occurs due to abnormalities in hemoglobin synthesis, causes the imbalance of globin production. Identification of thalassemia's carrier plays a role to prevent disease's inheritance. Diagnostic approaches regarding anemia, especially in families are important because they are prone to inherit the disease. This study was aimed to know the compatibility of Mentzer, England & Fraser, Shine & Lal, and Srivastava indices with hemoglobin electrophoresis in transfusion-dependent thalassemia patient's family. Methods: This was a cross sectional study by obtaining routine hematology and hemoglobin electrophoresis from thalassemia major patient's family screening. The data then analyzed with Kappa and chi-square to get the compatibility and significance between variables. Data were analyzed using Microsoft Excel and SPSS version 17 for Windows Results: From 99 subjects, most of them are women aged 18-55 years. Beta thalassemia trait based on Mentzer, England & Fraser, Srivastava, and Shine & Lal was in 46,5%, 55,6%, 55,6%, and 54,5% research subjects respectively. Hemoglobin electrophoresis results showed that beta thalassemia trait was in 47.5% subjects. Kappa test showed good and significant compatibility result of hemoglobin electrophoresis with Mentzer (k=0,663,p= 0,0001) and England & Fraser (k=0,636,p=0,002) indices, also moderate and significant compatibility for Srivastava (k=0,558,p=0,018) and Shine & Lal indices(r=0,527,p= 0,015) with hemoglobin electrophoresis Conclusions: There were compatible and significant results between Mentzer and England & Fraser with hemoglobin electrophoresis. Meanwhile, Srivastava and Shine & Lal indices have medium compatibility so that they can be used as an initial screening for beta thalassemia trait in transfusion-dependent thalassemia patient's family
Frequency of beta-thalassemia trait in families of thalassemia major patients, Lahore
Journal of Ayub Medical College, Abbottabad : JAMC
Thalassemia major is one of the most common genetic disorders in Pakistan and over five thousand new patients are added in the pool annually. This familial disease has both medical and social implications, and therefore there is a need to assess the magnitude of beta-Thalassemia trait amongst family members of Thalassemia major patients. This cross-sectional descriptive study enrolled 674 blood samples from first degree relatives of registered patients of Thalassemia major at Sir Ganga Ram Hospital, Lahore. Peripheral blood smears were studied for abnormal morphology findings of microcytosis, hypochromia, poikilocytosis (tear drops, target cells) and Erythrocyte indices (haemoglobin, RBCs, mean corpuscular haemoglobin, mean corpuscular volume, mean corpuscular haemoglobin concentration) and Hb electrophoretic (HbA, HbA2, & HbF). Hb electrophoresis showed 61% of the study subjects had haemoglobinopathies. Frequency of beta-Thalassemia trait was highest followed by beta-Thalassemia ma...
Annals of Clinical and Laboratory Research, 2021
Background: Beta-thalassemia trait (βTT) is a common hemoglobinopathy and imposes a significant burden on the global healthcare. Screening of this disorder is immensely important as it can significantly reduce the future incidence of thalassemia major. This study was conducted in order to evaluate the role of discrimination indices to differentiate cases of βTT from other causes of microcytic anemia. Materials and Methods: A single-center study was carried out on 1600 subjects reported during November 2015 to November 2017.Tests for serum iron and ferritin were also conducted in individuals showing low MCV. All the selected samples were subjected to complete blood counts and blood morphology. Cellulose acetate alkaline electrophoresis and iron profile were carried out to differentiate IDA and beta thalassemia trait. Comparison of various parameters and discrimination indices were calculated for all the samples. Results: Shine and Lal index, Mentzer index and red cell distribution width index had revealed better discriminative function compared to England and Fraser index, Srivastava index, and Green and King Index. Conclusion: Though HbA2 estimation is the gold standard for diagnosing βTT, in developing countries, discrimination indices are rapid, reliable and easy tools to screen cases of βTT and send the subject for further electrophoresis and high performance liquid chromatography evaluation.
A stepwise α-thalassemia screening strategy in high-prevalence areas
European Journal of Haematology, 2013
Introduction: Coinheritance of a-thalassemia influences the clinical and hematological phenotypes of b-hemoglobinopathies (b-thalassemia and sickle cell disease) and when present together in significant frequency within a population, a spectrum of clinical forms is observed. Precise molecular characterization of a-thalassemia is important in understanding their disease-modifying role in b-hemoglobinopathies and for diagnostic purposes. Patients and methods: Because currently used approaches are labor/costintensive, time-consuming, error-prone in certain genotype combinations and not applicable for large epidemiological screening, we developed a systematic stepwise strategy to overcome these difficulties. We successfully applied this to characterize the a-globin gene status in 150 Omani cord blood samples with Hb Barts and 32 patients with HbH disease. Results: We observed a good correlation between a-globin genotypes and level of Hb Bart's with the Hb Bart's levels significantly higher in both deletional and non-deletional a-globin genotypes. The most common a-globin genotype in HbH cases was a TSaudi a/ a TSaudi a (n = 16; 50%) followed by Àa 3.7 /-MED (n = 10; 31%). This approach detects also the a-globin gene triplication as exemplified by the study of a family where the b-globin gene defect failed to explain the b-thalassemia intermedia phenotype. Conclusion: Molecular characterization of a-thalassemia is complex due to high sequence homology between the duplicated a-globin genes and to the existence of a variety of gene rearrangements (small and large deletions of various sizes) and punctual substitutions (nondeletional alleles). The novelty of our strategy resides, not in the individual technical steps per se but in the reasoned sequential order of their use taking into consideration the hematological phenotype as well.