This study was designed to estimate interferon-gamma (INF-gamma) levels among polytransfused haematology cases. Cases were selected from the haematology unit of Alexandria main university hospital, Egypt. Complete blood counts, estimation of INF-gamma and hepatitis B and C virus (HBV and HCV) status were conducted on 20 unsplenectomized patients with gamma-thalassaemia major and 20 patients wit...

We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brother. The cousin has less typical dysmorphism and a virtually normal routine blood count, but haemog...

background : the medical and economic problem of thalassaemia are considered to be a vast public health problem in the thalas­saemia belt countries, emphasizing more on prenatal diagnosis as the solution of the problem. methods: a cross-sectional descriptive study was conducted in the institute of haematology & transfusion medicine lo­cated in medical college, kolkata, india to assess the socio...

A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in beta-thalassaemia carriers and investigate their influence on iron absorption. A total of 41 beta-thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymor...

This molecular genetics study was conducted in Karachi, Pakistan from 2004 to 2006 to provide guidelines for prenatal diagnosis programmes in the country. Blood samples of patients with beta-thalassaemia minor (n=200) and beta-thalassaemia major (n=150) were collected from hospitals, transfusion centres and diagnostic laboratories from different districts of Karachi, representing 5 major ethnic...

Thalassaemia is the most frequent hereditary disorder in Pakistan, with an estimated 8-10 million carriers. This single-centre study reported the frequency of haemoglobinopathies among 504 consecutive cases visiting Islamabad Diagnostic Centre for haemoglobin electrophoresis from July 2010 to February 2011. Haemoglobin electrophoresis was performed on cellulose acetate membrane, followed by sta...

OBJECTIVES This study aimed to detect α- and β-thalassaemia mutations in the Jino ethnic minority population of Yunnan Province, Southwest China. DESIGN A total of 1613 Jino adults were continuously recruited from February 2012 to April 2012. Fasting venous blood samples were obtained to determine haematological variables. Haemoglobin analysis was conducted using high-performance liquid chrom...

AIMS To evaluate prospectively the left ventricular performance in thalassaemia major and sickle cell disease using comprehensive echocardiographic imaging including acoustic quantification during early childhood. METHODS AND RESULTS Twenty-three patients with thalassaemia and 26 patients with sickle cell disease underwent echocardiographic examination including M-mode, 2-D, Doppler and acous...

Haemoglobinopathies are the most common monogenic inherited disorders of erythrocytes. Carriers of haemoglobinopathies are partially protected against morbidity and mortality of falciparum malaria, resulting in their higher prevalence in tropical countries. Estimates in India show 3–17% prevalence of β-thalassaemia, but its magnitude in the Central-East coast of India, especially in Orissa is n...