Mutations in human Krüppel-like factor 1 (KLF1) have recently been reported to be responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2). Because increased HbF and HbA2 levels are important features of β-thalassemia, we examined whether there is any relationship between KLF1 mutation and β-thalassemia in China. To do this, we first studied the incidence of KLF1 mutations in 2...

Background. Nontransfusion dependent thalassemia (NTDT) is a milder form of thalassemia that does not require regular transfusion. It is associated with many complications, which differ from that found in transfusion-dependent thalassemia (TDT). Currently available information is mostly derived from beta-NTDT; consequently, more data is needed to describe complications found in the alpha-NTDT f...

BACKGROUND Thalassemia is the most common inherited disease in southern China. However, this disorder is usually ignored by Jiangxi provincial health system and government due to lack of epidemiological data. MATERIALS AND METHODS A total of 9489 samples from Hakka Han and Gan-speaking Han in three geographical areas of Jiangxi Province were analyzed for both complete blood cell (CBC) count a...

The haemoglobinopathies and thalassemias represent the most common inherited monogenic disorders in the world. Beta-thalassaemia major is an ongoing public health problem in Malaysia. Prior to 2004, the country had no national policy for screening and registry for thalassemia. In the absence of a national audit, the true figure of the extent of thalassemia in the Malaysian population was largel...

Thalassemia is among the most common genetic disorders worldwide; 4.83 percent of the world’s population carry globin variants, including 1.67 percent of the population who are heterozygous for a -thalassemia and b -thalassemia. In addition, 1.92 percent carry sickle hemoglobin, 0.95 percent carry hemoglobin E, and 0.29 percent carry hemoglobin C. Thus, the worldwide birth rate of people who ar...

Microcytosis is a common hematological finding, usually related to iron deficiency or beta-thalassemia. When both of these conditions are excluded, alpha-thalassemia must be considered in the differential diagnosis. No simple biochemical test is able to diagnose the alpha-thalassemia trait. Using PCR amplification of the breakpoint in deletional forms, and amplification of the alpha 2 gene and ...

Introduction Thalassemia is a group of genetic disorders resulting in the decreased production of globin chains, alpha or beta, leading to the decreased production of hemoglobin (Hb). For the heterozygous state, it can be recognized by the microcytosis of its red blood cell or the decreased mean corpuscular volume (MCV) of less than 80 fL. For alpha-thalassemia-1 or alpha(0)thalassemia traits, ...

BACKGROUND Beta-thalassemia is one of the most common genetic disorders in Thailand. Clinical phenotype ranges from silent carrier to clinically manifested conditions including severe beta-thalassemia major and mild beta-thalassemia intermedia. OBJECTIVE This study aimed to characterize the spectrum of beta-globin gene mutations in pediatric patients who were followed-up in Phramongkutklao Ho...

The frequency of alpha-thalassemia was 3.6% among Turkish newborns in a study that employed globin gene mapping analysis of DnA [4]. In our study, in 13 out of 205 cord blood samples alpha-thalassemia was found 6.3%. There was mistake at incidence so hat we improved with erratum [5]. The incidence of β-thalassemia trait was very high level, the incidence of a-thalassemia trait was also found hi...

Blood (print ISSN 0006-4971, online ISSN 1528-0020), is published weekly by only. The American The J Society ournal of of Hematology VOL 72, NO 4 OCTOBER 1988 THALASSEMIA is an autosomal recessive disease characterized by hypochromic, hemolytic anemia, and dependence on blood transfusions to sustain life.' Even with chelation therapy to remove excess iron stores, the life expectancy in classic ...