β-Thalassemia is a public health problem where 4.5% of Malaysians are β-thalassemia carriers. The genetic disorder is caused by defects in the β-globin gene complex which lead to reduced or complete absence of β-globin chain synthesis. Five TaqMan genotyping assays were designed and developed to detect the common β-thalassemia mutations in Malaysian Malays. The assays were evaluated with 219...

Background: Approximately 180 mutations have been described in β-thalassemia worldwide with specific spectrum in each ethnic population. This study determines the spectrum and the frequency of β-thalassemia mutations in patients with β-thalassemia trait and sickle cell-β-thalassemia. Methods: Fifteen compound heterozygous sickle cell thalassemia (SCT) and 23 β-thalassemia trait patients were st...

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 (Ta...

Background and Objective: Beta-thalassemia major (β-Thal) compound heterozygote of Sickle β-thalassemia (S-β Thal) are hereditary autosomal recessive disorders resulting from mutations or deletion in β-globin gene cluster. Patients with increased HbF levels having polymorphism at BCL11A site loci have shown clinical significance. The present study aimed to assess the frequency a population β-Th...

The most common hypochrom microcytic anemia are iron deficiency anemia (IDA) and thalassemia minor (TM). The results of some studies have shown that IDA can cause misdiagnosis of heterozygote β-thalassemia due to decrease in HbA2 level. Our aim in this study was evaluating the effect of IDA on HbA2 levels; Furthermore hematolagic values in CBC of these two diseases will be compared. In this stu...

Thalassemia intermedia (TI), also known as nontransfusion dependent thalassemia (NTDT), is a type of thalassemia where affected patients do not require lifelong regular transfusions for survival but may require occasional or even frequent transfusions in certain clinical settings and for defined periods of time. NTDT encompasses three distinct clinical forms: β-thalassemia intermedia (β-TI), Hb...

Bệnh Thalassemia là bệnh di truyền phổ biến nhất trên thế giới. Ước tính tỷ lệ mang gen thalassemia trung bình trong cộng đồng tất cả các dân tộc Việt Nam 13,8%. β-thalassemia thể nặng có biểu hiện thiếu máu tan nặng, ảnh hưởng đến khả năng sống, chất lượng sống của người bệnh. Việc sàng lọc, chẩn đoán sớm bệnh, đóng vai trò quan trọng giúp hạn chế sinh ra trẻ mắc β-thalassemia. Nhiều kỹ thuật ...

β-Thalassemia is a genetic disease characterized by reduced or non-functionality of β-globin gene expression, which is caused due to a number of variations and indels (insertions and deletions). In this case study, we have reported a rare occurrence of compound heterozygosity of two different variants, namely, HBBc.92G > C and HBBc.92 + 5G > C in maternal amniotic fluid sample. Prenatal β-thala...

conclusions the etiology of pah in thalassemia is multifactorial such as inflammatory mediators. also, the absence of the spleen plays an important role in developing a high trv and pah. results average age of the patients was 21.15 ± 6.68 years. no significant difference was observed in the pap between the 2 groups of thalassemia major and intermedia and also the 2 sex groups. indeed, 6.6% of ...

β- thalassemia major is a common hemoglobinopathy in humans. in some journals, numerous studies have reported different prevalence of hepatitis c among β- thalassemia major because thalassemic patients need multiple blood transfusions and blood transfusion is a common transmission pathway for hepatitis c virus. thus this study was performed for detection of anti-hcv between β- thalassemia major...