Alpha-thalassaemia is a very rare disease in Northern Europe in contrast to hereditary spherocytosis that is associated with red blood cell membrane defects. We report here alpha-thalassaemia case who was also found to bear the erythrocyte membrane protein 4.2 gene mutations. mRNA relative quantification of red cell membrane protein genes in a Polish patient with alpha-thalassaemia trait indica...

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...

BACKGROUND Red cell microcytosis is a common abnormality detected in a full blood count, which often prompts clinicians to investigate further for a cause. In the absence of iron deficiency and anaemia of chronic disease, the differential diagnosis includes β-thalassaemia trait and α-thalassaemia trait. METHODS We investigated the contribution of α-thalassaemia trait in South African subjects...

One thousand consecutive Brunei Darussalam patients referred with low Hb, and/or low MCV and MCH (Hb < 12.5g/dl, MCV < 76fl, MCH < 27pg) were studied in the laboratory for underlying haemoglobinopathies. 30.0% of such patients were proved to have either beta-thalassaemia trait, beta-thalassaemia major, Hb AE, Hb EE, Hb E beta-thalassaemia or Hb H disease. In some, the haemoglobin abnormality wa...

Heterozygous haemoglobin E (Hb E) with deletional alpha (α)-thalassaemia is commonly seen in Southeast Asia including Kelantan, a Northeastern state of Malaysia. Studies Malaysia showed that Hb the commonest among Malay Penang and Senoi group Orang Asli [1-5].&#x0D; &#x0D; This study aimed to compare haematological parameters (Hb, RBC, MCV, MCH, RDW heterozygous α-thalassaemia subjects. also in...

A population survey in northern Liberia showed an average incidence of 9 percent of beta-thalassaemia trait. There was considerable tribal variation, the highest rates being mainly found in tribes having a low incidence of Hb S. A single example of deltabeta-thalassaemia trait was also found; the incidence of delta-chain variants was 1.8 percent. The effect of malaria on Hb A2 levels was invest...

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients ...

Haemoglobinopathies and different forms of thalassaemias including alpha thalassaemia has been found to be as high as 10% in Eastern India. The alpha globin disorders are less commonly reported because the diagnosis of alpha thalassaemia is usually missed unless in the severe homozygous form or as Hb Barts. But presence of alpha gene has been found in cases of unexplained anaemias and also in s...

We present the findings of a survey to determine the prevalence of inherited haemoglobin disorders in the Coloured (mixed ethnic origin) population of South Africa. A variety of haemoglobins was found. Of the structural variants, Hb E and Hb S were the most common, the former probably originating from South-East Asia and the latter from East Africa and possibly Madagascar. The alpha+ (-alpha) t...