Thalassemia, an inherited quantitative globin disorder, consists of two types, α– and β–thalassemia. β–thalassemia is a heterogeneous disease that can be asymptomatic, mild, or even severe. Considerable research has focused on investigating its underlying etiology. These studies found DNA hypomethylation in the β–globin gene cluster significantly related to fetal hemoglobin (HbF) elevation. His...

Thalassemia is a chronic disease that can affect quality of life. The purpose this study was to determine the effect family support, transfusion compliance and self-efficacy on life children with thalassemia. This research correlational cross-sectional approach. sample consisted 45 people. Data were collected using questionnaires, statistical analysis descriptive data respondents’ characteristi...

Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common types of mutations in α-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, α-thal carriers have come to more attention. Therefore, the frequency and distri...

Both the clinical course and molecular alterations of sickle cell anemia (Hb SS) are highly distinct. Possible modulators of phenotypical variability have been documented, including alpha-thalassemia and beta S-globin gene cluster haplotypes. (1) The possible benefits of alpha thalassemia co-inheritance also affect hematological parameters. (2) The Hb S intra-cellular concentration seems to pre...

Few literatures have elaborated on the clinical characteristics of children with thalassemia from low-prevalence areas. A retrospective analysis was conducted on children genetically confirmed with thalassemia at Seoul National University Children's Hospital in Korea. Nine children (1α thalassemia trait, 6β thalassemia minor, 2β thalassemia intermedia) were diagnosed with thalassemia at median ...

Thalassemia, a hereditary anemia, has been a major public health problem in Thailand and Southeast Asia for decades, yet the prevalence of thalassemia in Thailand is not decreasing due to lack of awareness of this disease in Thai population, which implied that genetic counseling was a failure. We determined the problems and obstacles in thalassemia counseling in Thailand and proposed the possib...

A study of the molecular lesions of beta-thalassemia in Lebanon revealed the presence of eight different mutations in 25 patients with Cooley's anemia. The IVS1 position 110 mutation predominated with a frequency of 62% and was almost invariably associated with Mediterranean chromosome haplotype I. Five other mutations commonly found in the Mediterranean area occurred with frequencies of 2% to ...

In Ontario, Canada, beta-thalassemia is easily detected through measurement of hemoglobin A2, but most laboratories do not do exhaustive DNA investigations for alpha-thalassemia. Therefore, the prevalence of thalassemia in microcytic samples for hemoglobinopathy investigation in Ontario is unknown. To address this, we performed a prospective cohort study in which samples referred for hemoglobin...

Mục tiêu nghiên cứu: Mô tả đặc điểm huyết học và tỷ lệ lưu hành gen bệnh tan máu bẩm sinh (thalassemia) ở trẻ em 3-15 tuổi tại huyện Hà Quảng, tỉnh Cao Bằng. Phương pháp cắt ngang có phân tích trên đối tượng là 223 từ 3 -15 Bằng tháng 9/2021 đến 1/2023. Kết quả Tỷ thiếu chung 18,9%; mức độ nặng 0,9%, vừa 5,8%, nhẹ 12,1%; hồng cầu nhỏ nhược sắc 25,6%; sắt đơn thuần 1,8%; 0,4%, bất thường tố 7,2%...