Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin
نویسندگان
چکیده
منابع مشابه
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.
The persistence of high fetal hemoglobin level in adults may ameliorate the clinical phenotype of beta-thalassemia and sickle cell anemia. Several genetic variants responsible for hereditary persistence of fetal hemoglobin, linked and not linked to the beta globin gene cluster, have been identified in patients and in normal individuals. Monoallelic loss of KLF1, a gene with a key role in erythr...
متن کاملCompound Heterozygosity for Hemoglobin and Korle-Bu: Moderate Microcytic Hemolytic Anemia and Acceleration of Crystal Formation
We report here that compound heterozygosity for hemoglobin Korle-Bu (HbKB) and HbC (j36 Glu + Lys) is associated with moderate chronic hemolytic anemia with microcytosis. To understand the pathogenesis of this syndrome, we have studied the effect of Hb Korle-Bu (KB = 873 Asp + Asn) on the crystallization of HbC. We have previously established that fetal Hb (HbF) inhibits the crystallization of ...
متن کاملMicrocytic hypochromic anemia patients with thalassemia: genotyping approach.
BACKGROUND Microcytic hypochromic anemia is a common condition in clinical practice, and alpha-thalassemia has to be considered as a differential diagnosis. AIMS This study was conducted to evaluate the frequency of alpha-gene, beta-gene and hemoglobin variant numbers in subjects with microcytic hypochromic anemia. SETTING AND DESIGNS Population-based case-control study in the Iranian popul...
متن کاملTen novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.
We investigated whether mutations in the KLF1 gene are associated with increased Hb F levels in ethnically diverse patients referred to our laboratory for hemoglobinopathy investigation. Functionally effective KLF1 mutations were identified in 11 out of 131 adult samples with an elevated Hb F level (1.5-25.0%). Eleven different mutations were identified, 9 of which were previously unreported. K...
متن کاملEvaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The İstanbul Perspective
OBJECTIVE Alpha thalassemia syndromes are caused by mutations on one or more of the four α-globin genes. Mutations could be either more commonly deletional or non-deletional. As some deletions (3.7 and 4.2) cause α+-thalassemia, some cause (-20.5, MED, THAI, FIL) α0 -thalassemia. The aim of this study was to determine alpha thalassemia mutations in patients with unsolved hypochromic microcytic ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2015
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2014.291