Reexamining 1-Gene Deletion α-Thalassemia: Is the Silent Carrier of Clinical Significance?
نویسندگان
چکیده
منابع مشابه
Clinical manifestations of α-thalassemia.
α-Thalassemia mutations affect up to 5% of the world's population. The clinical spectrum ranges from an asymptomatic condition to a fatal in utero disease. Hemoglobin H disease results from mutations of three α-globin genes. Deletional forms result in a relatively mild anemia, whereas nondeletional mutations result in a moderate to severe disease characterized by ineffective erythropoiesis, rec...
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Rarely, myelodysplastic syndrome (MDS) is complicated by an acquired form of α thalassemia (ATMDS) characterized by hypochromic, microcytic, anisopoikilocytic red cells with hemoglobin H (HbH) inclusions. Acquired mutations in ATRX, a chromatin remodelling gene, have recently been found in 12 patients with typical features of ATMDS, but have not been detected in MDS cases with similar red cell ...
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Background: Beta thalassemia is a common health problem in Iran especially in Northern provinces. Premarital screening for thalassemia is compulsory in Iran and identification of the carriers is based on primary CBC (Cell Blood Count) and hemoglobin electrophoresis. Silent mutations on β-globin gene have borderline or normal hematological indices that cannot be detected in premarital scree...
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Genetic mutations of the alpha genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of alpha-thalassemia, namely hemoglobin (Hb) H disease and Hb Bart's hydrops fetalis. The latter is generally a fatal intrauterine condition, while Hb H disease results in clinical complications that are frequently overlooked. The high prevalence of...
متن کاملCo-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016
Alpha Thalassemia is one of the most prevalent disorders worldwide with a [T1] high carrier rate in Mazandaran province (north of Iran). Carriers of --MED double gene deletion are at risk of having a child with hemoglobin haemoglobin[T2] H (HbH) disease, if they marry a silent carrier. Co-inheritance of αααAnti3.7 triplication that cannot be detected using hem...
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ژورنال
عنوان ژورنال: Acta Haematologica
سال: 2019
ISSN: 0001-5792,1421-9662
DOI: 10.1159/000504281