Asymptomatic homozygous deletional β0-thalassemia in an African individual
نویسندگان
چکیده
منابع مشابه
Homozygous beta thalassemia presenting as neonatal jaundice.
In hemolytic anaemia there is shorter than normal erythrocytic survival resulting in increased destruction of red blood cells (RBCs) which leads to raised bilirubin levels. Appearance of jaundice, however, depends not only Upon increased biirubin production but also on clearance mechanisms in the liver. These clearance mechanisms are not well developed in the neonates resulting in greater incid...
متن کاملCoinheritance of hemoglobin D-Punjab and β0-thalassemia 3.4 kb deletion in a Thai girl
Hemoglobin (Hb) D. Punjab [β121(GH4) Glu→Gln; HBB: C.364G>C] and β0-thalassemia 3.4 kb deletion are very rare in the Thai population. For the first time, the coinheritance of HbD-Punjab with β0-thalassemia 3.4 kb deletion was reported in a 7-year-old Thai girl. She had mild anemia (Hb 115.0 g/L and mean corpuscular hemoglobin 18.1 pg) with red blood cell microcytosis (mean corpuscular volume 52...
متن کاملAnalysis of intelligence quotient in patients with homozygous beta-thalassemia.
OBJECTIVE To compare the intelligence quotient (IQ) of patients with thalassemia major (TM) to that of normal children. METHODS We conducted the study in April and May 2002 on 294 homozygote beta-thalassemia patients, (157 male and 137 female, mean age of 13.2 years; range, 9-18 years). These 294 patients were randomly selected from the 984 TM patients who routinely refer to Shiraz Cooley's M...
متن کاملDetection of Common Deletional Alpha-Thalassemia Spectrum by Molecular Technique in Kelantan, Northeastern Malaysia
Thalassemia is a hereditary blood disorder that results from genetic defects causing deficient synthesis of hemoglobin polypeptide chains. Although thalassemia mostly affects developing countries, there is limited knowledge of its accurate frequency and distribution in these regions. Knowing the prevalence of thalassemia and the frequency of responsible mutations is therefore an important step ...
متن کاملPlasma microRNA-451 as a novel hemolytic marker for β0-thalassemia/HbE disease
In Southeast Asia, particularly in Thailand, β0-thalassemia/hemoglobin E (HbE) disease is a common hereditary hematological disease. It is associated with pathophysiological processes, such as the intramedullary destruction of immature erythroid cells and peripheral hemolysis of mature red blood cells. MicroRNA (miR) sequences, which are short non-coding RNA that regulate gene expression in a s...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2002
ISSN: 0361-8609
DOI: 10.1002/ajh.10118