alpha-Thalassemia is among the world's most common single gene disorders, which is most prevalent in the malaria belt. This geographic distribution has been attributed to a selective advantage of heterozygotes against this disease. Unexpectedly, we have found a high frequency of heterozygosity for deletional alpha-thalassemia (-alpha3.7) in Ashkenazi Jews (carrier frequency of 7.9%, allele freq...

Thalassemia and Sickle Cell Disease (SCD) both are genetic blood disorders occurring by destruction in red blood cells (RBCs). Every year about 300,000 infants worldwide are born with Thalassemia syndrome (30 per cents) and sickle cell anaemia (70 per cents. Globally, the percentage of carriers of Thalassemia is greater than that of carriers of SCA, but because of the high frequency of the sick...

Carrier screening programs have historically been focused within a particular group---e.g., Tay-Sachs among Ashkenazic Jews and sickle cell anemia among African Americans. With cystic fibrosis (CF), the potential target population is larger and less defined, which may introduce both technical and organizational complexity not present in past carrier screening. This appendix describes past carri...

Background: Hemoglobinopathies and betathalassemia is one of the most common autosomal disorders worldwide different molecular mechanisms, most of which are base substitution or small deletions or insertions of one or two nucleotides in the globin genes. It has been found that hemoglobinopathies and β-thalassemia mutations are relatively populations specific; each ethnic group has its own set o...

Thalassemia is a group of inherited blood disorders due to the reduction or absence globin chain synthesis which can cause hemolytic anemia. β-thalassemia major severe type thalassemia, in patients require lifelong transfusions for survival. Extravascular hemolysis on spleen results splenomegaly, meanwhile, extramedullary hematopoiesis causing hypersplenism develop beta-thalassemia patients. Hy...

Introduction Elevated HbA2 (hemoglobin A2) level is considered the most reliable hematological parameter for the detection of β-thalassemia carriers. However, some carriers are difficult to recognize because the level of HbA2 is not in the distinctive carrier range, i.e. 4.0-6.0%; instead, some carriers have HbA2 levels between normal and carrier levels, i.e. borderline HbA2 (HbA2 = 3.1-3.9%). ...

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...

background: the aim of this perspective study was to assess the frequency of hemoglobinopathy mutational genes among voluntary hemoglobinopathy carrier couples-to-be referred to thalassemia center, shafa hospital, affiliated to ahvaz jondidishapur university of medical sciences (ajuoms), during their first trimester of pregnancy for genetic screening and counseling for prenatal diagnosis (pnd)....

this study was undertaken in order to ascertain the carrier rate of group a hemolytic streptococci in the throats of pupils in selected schools of tehran, and to evaluate the role of socio-economical factors on carrier state. during the period of six months, 7020 children and adolescents, aged 10 to 17, were studied. these pupils were visited at their schools and their socio-economical level wa...