The malaria-protective β-globin polymorphisms, sickle-cell (β(S)) and β(0)-thalassaemia, are canonical examples of human adaptation to infectious disease. Occurring on distinct genetic backgrounds, they vary markedly in their patterns of linked genetic variation at the population level, suggesting different evolutionary histories. β(S) is associated with five classical restriction fragment leng...

Studies of splenic function were carried out on patients with sickle-cell diseases by the measurement of the clearance of autologous heat-damaged 99mTc-labelled erythrocytes from circulation and into the spleen, the spleen area by a scintillation scanning, the enumeration of pitted erythrocytes by direct-interference microscopy, and the percentage of irreversibly sickled cells (ISC) and of cell...

Submit Manuscript | http://medcraveonline.com Inherited haemoglobin disorders are the most frequent monogenic diseases worldwide. Seven per cent of the world’s population is estimated to carry a mutation in the beta (β) globin gene (HBB) (GenBank genomic reference sequence NG_000007.3), in a heterozygous state (carrier), while thousands of newborns are affected by a severe haemolgobin disorders...

Background: Aim: To review the usefulness of chorionic villus sampling for prenatal diagnosis of thalassaemia with focus on risk of miscarriage and stillbirth in Indian women and thus provide local data for counseling the prospective parents in similar situation. Methods: This retrospective study reviewed the pregnancy outcome of 362 patients with thalassaemia who underwent transabdominal chori...

Aims: To assess the accuracy and precision of measuring haemoglobin A2 by high performance liquid chromatography (HPLC) in the presence and absence of sickle cell trait, with or without a thalassaemia trait. Methods: The haemoglobin A2 percentage and the haemoglobin A2 plus S percentages were determined by HPLC on 82 normal controls and 78 patients with sickle cell trait, respectively; the a th...

AIMS To investigate the costs and potential benefits of different policies for antenatal screening for haemoglobinopathies in two multiethnic London communities. METHODS 1000 consecutive antenatal patient samples referred to each of two London teaching hospital laboratories for haemoglobinopathy testing were investigated using the standard procedures of the laboratory in question. When the st...

Background and Aims: Hepatitis C virus is one of the viral infections transmitted by blood transfusion. Patients with thalassaemia frequently need blood transfusion and are in danger of HCV infection. In most cases of infection (85%) the virus evades the immune system and establishes a chronic infection that may lead to cirrhosis and liver carcinoma. Liver is the main site of HCV replication ...

To investigate the possible causes of an increased incidence of red cell microcytosis in Asian children, 204 Gujarati Asian children and 88 European children attending community infant welfare clinics underwent initial screening tests for determination of red cell indices. Seventy six Asian (37%) and nine European (12%) children had microcytic red cells (mean corpuscular volume <74 fl). Further...