The level of Hb C in the erythrocytes of individuals with Hb C trait decreases significantly in the presence of coexisting a-thalassemia. This relationship may result from the higher affinity of 9A than c for limiting amounts of a-globin during hemoglobin assembly. This mechanism would predict that the 1 A and synthetic capacity in a-thalassemic individuals with Hb C trait should be balanced de...

SYNDROMES are characterized by the unequal production of structurally normal globin subunits.’ Very few mutations of hemoglobin structure mimic the clinical phenotype of thaIassemia. The Lepore i5fl hemoglobins’2 and the elongated a-chain termination codon mutants3 are structural variants that are poorly synthesized, leading to erythrocyte microcytosis and conditions similar to heterozygous (3o...

The purpose of the present study was to establish reference values for hemoglobins (Hb) using HPLC, in samples containing normal Hb (AA), sickle cell trait without alpha-thalassemia (AS), sickle cell trait with alpha-thalassemia (ASH), sickle cell anemia (SS), and Hb SC disease (SC). The blood samples were analyzed by electrophoresis, HPLC and molecular procedures. The Hb A2 mean was 4.30 +/- 0...

Wit/i the technical assistance of Anne Council F ETAL HEMOGLOBIN ( Hb F) is the major respiratory pigment formed during intrauterine life. In the adult, however, only trace concentrations normally are present. In man there are at least two distinct conditions in which genetic factors cause elevated levels of Hb F in adult life. They are the hereditary persistence of fetal hemoglobin syndromes a...

Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassem...

Co-inheritance of alpha-thalassemia with homozygosity or compound heterozygosity for beta-thalassemia may ameliorate beta-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of alpha-thalassemia alleles (-alpha/alphaalpha --/alphaalpha, --/-alpha). The co-inheritance of beta-thalassemia with alpha-thalassemia with a single gene deletion (-alpha/alphaalpha)...

Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions. Cardiopulmonary complications are major causes of morbidity and mortality. Hemoglobin SS (Hb SS) represents a large proportion of SCD in the Americas, United Kingdom, and certain regions of Africa while higher proportions of hemoglobin SC are observed in Burkina Faso and h...

Abstract Introduction Asymptomatic microcytosis may be a prelude to microcytic hypochromic anemia of varied causes. Evaluation red cell indices help delineate cases needing further investigation like hemoglobin high-performance liquid chromatography (Hb-HPLC). In addition, markers iron homeostasis will confirm iron-deficient erythropoiesis (IDE)/iron deficiency (IDA). Materials and Methods This...

A seven month old male baby was admitted to NICU of BPKIHS, Dharan with dyspnoea and distress. He was investigated for hemolytic anemia and suspected of β Thalassemia (Homozygous) based on the low level of Hb and high HbF%. To investigate further, Hb electrophoresis was carried out using agar gel and citrate agar gel at pH 8.6 and 6.0 respectively along with control. Electrophoretogram showed s...

A new beta(0) thalassemia allele caused by a TGAT insert in codon 116 of exon III was detected in a patient compound heterozygous for beta(0) thalassemia / Hb D Los Angeles and his father. The mutation unexpectedly causes a classical thalassemic phenotype. The compound heterozygosity leads to mild microcytic anemia and no further clinical signs.