OBJECTIVE To study the issues and dilemmas in prenatal diagnosis of Sickle cell anemia (SCA) and to evaluate the role of genetic modifiers in counseling the families. METHODS The authors studied the genotype in 47 individuals with increased HbS and three representative families were taken as an example for describing various issues which need to be sorted out for appropriate counseling. RES...

High frequency of erythrocyte (red blood cell [RBC]) genetic disorders such as sickle cell trait, thalassemia trait, homozygous hemoglobin C (Hb-C), and glucose6-phosphate dehydrogenase (G6PD) deficiency in regions with high incidence of Plasmodium falciparum malaria and casecontrol studies support the protective role of those conditions. Protection has been attributed to defective parasite gro...

conclusions in iran, hsct has been successfully adapted in routine clinical care. recently, new methods such as double cord blood and haploidentical transplantation have been used to treat many life-threatening diseases. results about 78.2% of the patients (2530 of 3237) remained alive between one to 211 months after stem cell transplantation. nearly, 21.8% (707) of our patients died after stem...

BACKGROUND Sickle cell anaemia is prevalent in sub Saharan Africa. While α+-thalassaemia is known to modulate sickle cell anaemia, its magnitude and significance in Uganda have hitherto not been described. OBJECTIVES To determine the prevalence of α+thalassaemia among sickle cell anaemia patients in Mulago Hospital and to describe the clinical and laboratory findings in these patients. METH...

The a globin genotype of a total of 282 Indians from Orissa state has been analyzed. The overall a thalassemia gene frequency is 0.29. most frequently caused by the a3’7 and a42 deletions. In one family a novel a3” deletion removing the al globin gene with some of its flanking sequences has been found. suggesting further sequence homology of the a globin gene cluster 3’ to the al globin gene. P...

Hemoglobinopathies are among the most common hereditary blood diseases worldwide and are considered a public health problem in some regions. In Brazil, hemoglobin S (Hb S) has a variable frequency between different regions mainly due to the ethnic composition of local populations. Due to the multiethnic characteristics of the Brazilian people, some regions reflect scenarios that allow us to con...

Context: Hemoglobinopathies and thalassemias are one of the most common genetic abnormalities prevalent in India and the Middle East. Aim: This study was performed to identify the distribution of abnormal types of hemoglobin (Hb) in a tertiary care diagnostic laboratory. Materials and Methods: An observational study was conducted in the Department of Hematology in a tertiary care diagnostic lab...

Butyrate analogues have been shown to increase fetal hemoglobin (HbF) production in vitro and in vivo. Sodium phenylbutyrate (SPB), an oral agent used to treat individuals with urea-cycla disorders, has been shown to increase HbF in nonanemic individuals and in individuals with sickle cell disease. We have treated eleven patients with homozygous /3 thalassemia (three transfusion dependent) and ...

Sickle cell hemoglobin is a β chain structural variant where valine is substituted for glutamic acid in the sixth amino acid position. A point mutation (A--->T) in codon 6 of the β globin gene which is located on the short arm of chromosome 11 is responsible for this abnormality. Despite the fact that all sickle cell disease patients have an identical single base change in their DNA, the severi...

Isoelectric focusing (IEF) of hemoglobin was compared to the classical chromatography of labeled globin chains for 22 antenatal diagnoses of hemoglobinopathies: 11 for beta thalassemia, and 11 for sickle cell disease. In all cases, the two methods gave identical results. The diagnosis was confirmed after birth or abortion. Three fetuses homozygous for beta thalassemia and one homozygous for sic...