beta thalassaemia imported from the mediterranean to the subcontinent?

The study was conducted to determine the source of beta thalassaemia mutations in Pakistan with the help of tracing the HLA antigens and common mutations. A total of one hundred and fifty five subjects [n=155] were included in the study. It included fifty-four patients of thalassaemia major [n=54] and their one hundred and one [n=101] siblings. HLA typing by lymphocytotoxicity method was performed for HLA class I antigens. Retrospective analysis was carried out for common beta thalassaemia associated mutations. The most frequent HLA class I frequencies and beta thalassaemia mutations were compared with different populations of the world to establish genetic ancestry of our patients. Our analyses showed that HLA B35 was present in our thalassaemics in the highest frequency. The antigen frequency [af] of HLA-B35 was 0.37 in thalassaemics while it was 0.21 in normal population [p=0.004]. The af of HLA-B35 was 0.24 in siblings of thalassaemics [p=0.06] versus normal population. However, increased expression of HLA B35 has not been reported in a number of the thalassaemic populations studied for HLA antigen. The combined HLA class I frequencies for our population have the closest match with those found in Caucasian population of the Mediterranean region. The study of the mutations for beta thalassaemia shows the mutation Fr 8/9 [G+] to be present in the highest frequency in areas of northern Pakistan. The HLA and mutation analysis show a trend for this mutation to be Asian-Indian in origin. The other common beta thalassaemia mutation that is prevalent in Southern region of Pakistan is IVS-l-5 substantiated by HLA and mutation analysis studies. It is probably of Arabic decent, as it occurs along the seashore of old trade route extending from Yemen to Philippines. There is evidence that beta thalassaemia mutations arose denovo spontaneously in Pakistan and India and then spread within pedigrees. However there is a chance that IVI-l-5 mutation may have been imported from Arabic Peninsula. It will be interesting to study HLA frequencies / RFLPs of Sindhi and Baluch populations and compare them with seashore areas enroute

Posttransplant Guillain Barre Syndrome

This case report describes a patient with severe aplastic anaemia, who developed Guillain Barre Syndrome [GBS] 10 weeks after allogeneic haematopoietic stem cell transplantation [HSCT] from HLA-matched siblingíyounger sister. GBS was preceded by pneumonia, herpes labialis and oral candidiasis a week earlier. Treatment with ventilatory management, intravenous human immunoglobulin [IVIg] and antimicrobials resulted in smooth recovery in thirty-one days