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 ...

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...

Nine cases of the thalassaemia trait are described in an English family. The problem of distinguishing these cases from those of the common hypochromic anaemias by simple laboratory tests is discussed.Iron-resistant hypochromic anaemia in people of British ancestry may be caused by the thalassaemia trait. Such cases have been reported by Bywaters (1938), Israëls, Suderman, and Hoogstraten (1955...

Background/Aims: Beta (β)thalassaemia is a public health problem in Malaysia. The carrier rate is estimated to be 4.5% by micro-mapping studies particularly among Malays who comprise 53.5% of the population in Malaysia (1). The common diagnostic method in Malaysia for mutation detection is by amplification refractory mutation system (ARMS). It allows single mutation detection in each reaction b...

Abstract The study of thalassaemia syndromes in archeological human remains is growing interest the field paleopathology. However, a definitive diagnosis disease skeletonized individuals difficult. Several non-specific bone lesions have been suggested as most likely evidence ?-thalassaemia syndrome. In particular, skull considered by several scholars indicative this hematopoietic disorder, whil...

Extramedullary haematopoiesis associated with thalassaemia leading to spinal cord compression is an extremely rare event in the course of the disease. The efficacy of radiation therapy is advocated in the management of such a complication. Two patients with thalassaemia, who had presented with spinal cord compression, were successfully treated by a modest dose of local radiotherapy. In one of t...

Objective—The aim of the study was to determine the prevalence of cryoglobulinaemia and its clinical features among â-thalassaemia patients. Methods—Eighty eight multitransfused â-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 ferritin, ...