Thalassemia intermedia encompasses a wide clinical spectrum of beta-thalassemia phenotypes. Some thalassemia intermedia patients are asymptomatic until adult life, whereas others are symptomatic from as young as 2 years of age. A number of clinical complications commonly associated with thalassemia intermedia are rarely seen in thalassemia major, including extramedullary hematopoiesis, leg ulce...

We prospectively compared a single-tube multiplex polymerase chain reaction (PCR) for detecting alpha-thalassemia with our current approach using 452 blood samples. Initial evaluation of 89 specimens revealed sensitivity and specificity, respectively, for the hemoglobin H inclusion body test (HbH prep) vs PCR for detecting alpha0-thalassemia carriers of 0.79 and 0.96 and for a mean corpuscular ...

The conventional approach to qualitative and quantitative analyses of hemoglobin (Hb) molecules for the diagnoses of hemoglobinopathies requires a combination of tests. We used an automated HPLC (VARIANT) system to study alpha-thalassemia and beta-thalassemia syndromes in Thailand. The beta-thalassemia short program is applicable to the diagnosis of alpha-thalassemia and beta-thalassemia disord...

I enjoyed reading Bilgen et al.’s case report, The effect of HBB: (c*+96T>C (3’UTR+1570 T>C) on the mild β-thalassemia intermedia pheonotype, in the recent issue of the Journal (2011; 28: 219-222). I congratulate the authors for exploring at the molecular level at least one of the thalassemia minima that fits well with the present clinical thalassemia nomenclature. Based on their clinical descr...

Thalassemia is a congenital hemolytic anemia prevalent in Asian and Mediterranean races. The homozygous state results in thalassemia major or Cooley's anemia, and such patients are transfusion-dependent. A less severe syndrome, thalassemia intermedia, may be due to compound heterozygosity for /3-thalassemia and /3 variant (e.g., hemoglobin E [HbE]) genes and is characterized by anemia, jaundice...

Thalassemia is the most common inherited single gene blood disease worldwide and present a significant health problem in world. Approximately, 1.5% of global populations (An estimated 80–90 million people) are carriers β-thalassemia. Around 5% Indonesia population thought to carry thalassemia gene. The globin imbalance β-thalassemia major causes hemolysis ineffective erythropoiesis which result...

The inherited diseases of hemoglobin have remarkable phenotypic variability because of genetic modifiers necessitating medical intervention at various stages of disease. Genotype–phenotype relationship is crucial in this regard. So three year retrospective study of biochemical pattern of Hemoglobinopathies and Thalassemias and their clinical manifestations was done in a cohort of 689 patients i...

BACKGROUND Iron Deficiency Anemia (IDA) is an important health problem all around the world especially in developing countries. In the Mediterranean countries another prevelant reason of anemia is Thalassemia. Certain strategies had been established as a government policy to reduce prevalence in North Cyprus, such as pre-marital screening of Thalassemia. The prevalence of thalassemia trait has ...

Based on the mechanism of pathophysiology, thalassemia major or transfusion-dependent thalassemia patients may have an increased risk of developing organic erectile dysfunction resulting from hypogonadism. However, there have been few studies investigating the association between erectile dysfunction and transfusion-naive thalassemia populations. We constructed a population-based cohort study t...

Premarital screening (PMS) can be an important tool to detect of carriers of hemoglobinopathies. The aim of this study was to assess the knowledge and attitude of premarital couples about Thalassemia before PMS in Denizli province. This cross-sectional study was conducted between August-December 2013. The target population was all premarital couples who applied to the City Hemoglobinopathy Cont...