Patients with severe thalassaemia major suffer endocrine and other abnormalities before their eventual death from iron overload due to repeated blood transfusions. The endocrine status of 31 thalassaemic patients aged 2-5 to 23 years was investigated. Exact data were available on the rate and duration of blood transfusion in all of them and in many the liver iron concentration was also known. A...

To cite: Singh A, Varma S. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2014-207637 DESCRIPTION A 19-year-old man presented with dysmorphic facies, progressive fatigability and exertional breathlessness from the age of 15 years. On examination the patient had classical ‘Chipmunk facies’ (figure 1), short stature, delayed puberty and mild splenomegaly. X-ray of...

Abnormal growth is a common feature of thalassaemia major in children. In an attempt to determine whether it has a nutritional cause, 12 children aged 1 to 3 years with thalassaemia major were studied under metabolic ward conditions. Nutritional status was assessed by anthropometry and biochemistry before and after an intensive nutrition regimen. Five children had wasting or stunting on admissi...

Transfusion dependent thalassaemia is a significant problem in Sri Lanka. In a study published in 2000, it was estimated that there were approximately 2000 transfusion dependent beta thalassaemia and HbE patients in Sri Lanka and the expenditure on them accounted for approximately 5% of the recurrent health budget of the country [1]. This number has by and large remained static over the past de...

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...

Madam, Beta thalassaemia major is a common genetic disorder in the country and hepatitis B and C viruses are prevalent in the blood donors population. therefore, patients with beta thalassaemia major who receive blood transfusions regularly to maintain optimal Hb level frequently suffer from the hepatitis infection. An earlier study has shown 51% prevalence of hepatitis C infection among them. ...

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...