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...

BACKGROUND Iron is vital for all the living organisms. However, excess iron is hazardous because it produces free radical formation. Therefore, the iron absorption is carefully regulated to maintain an equilibrium between the absorption and the body loss of iron. Considering the lack of specific excretory pathways for iron in humans, an iron overload in the tissues is frequently encountered. It...

OBJECTIVE The aim of the study was to determine the prevalence of cryoglobulinaemia and its clinical features among beta-thalassaemia patients. METHODS Eighty eight multitransfused beta-thalassaemia patients were studied. They were physically examined and asked about the presence of cryoglobulinaemia related symptoms. Hepatitis C virus (HCV) serology, HCV-RNA, HCV subtypes, viraemia, serum fe...

Thalassaemia carriers are common in the Asian region including Malaysia. Asymptomatic patients can be undiagnosed until they present for their antenatal visits. Devastating obstetric outcome may further complicate the pregnancy if both parents are thalassaemia carriers leading to hydrophic fetus due to haemoglobin Bart's disease. However in certain cases where unexplained hydrops fetalis occur ...

A family of four from the Guangxi Zhuang Autonomous Region of China, including a child with α-thalassaemia and hereditary spherocytosis (HS), underwent laboratory identification, and genetic analysis. After harvesting peripheral blood samples from the child patient and his family members, GAP-polymerase chain reaction (PCR) and reverse dot-blot tests were used to identify thalassaemia genotypes...

Thalassaemia major is a classic example of a disease that is preventable by prenatal diagnosis. Although the technology was introduced to Hong Kong more than a decade ago, new patients are continuously seen in the Hong Kong Administrative Region. This retrospective review concerns children who were diagnosed to have severe beta-thalassaemic syndromes at the Tuen Mun Hospital from 1990 to 1996. ...

The interaction of homozygous alpha thalassaemia 2 with homozygous sickle cell (SS) disease results in a generally milder haematological picture with less intravascular sickling, less haemolysis, and higher haemoglobin levels. Clinically, patients are generally more mildly affected, though not all vaso-occlusive complications are reduced. Thus there is a possibility that the advantages gained b...

Alpha+-thalassaemia is well known for conferring partial protection to severe malaria. On the other, Glutathione-S-transferase (GST) polymorphism has recently been associated to severe malaria in children. A retrospective cross sectional study was carried out to determine the relationship between genotypic polymorphisms of alpha+-thalassaemia and glutathione-S-transferase in children with sever...

A family of mixed Indian-Portuguese ancestry is reported in which there is a hereditary persistence of foetal haemoglobin and beta-chain thalassaemia. The propositus, a 17-year-old boy, was found to have a mild haemolytic anaemia characterized by slight splenomegaly, microcytosis, numerous target cells, decreased osmotic fragility, a very high level of foetal haemoglobin (75%), and normal haemo...

background and aims: hepatitis c virus is one of the viral infections which is mainly 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 hc...