Beta thalassaemia Major
A carrier of the abnormal gene as in Beta Thal is usually symptomless but where incidences in populations are high the chance of two carriers having a child with Thalassaemia escalates.
In the United Kingdom, twenty years ago the community most at risk was principally from Cyprus and then those from around the Mediterranean Sea. Now the situation is completely changed with the Cypriot group only accounting for 7% of the U.K’s Thalassaemia births but the Asian Communities of India, Pakistan and Bangladesh account for 79% of Thalassaemia births.
Although the absolute numbers of children born as relatively small (16 to 23 per annum) the impact of this devastating disorder on the individual sufferer, the parents and the state is out of proportion to its small numbers.
For example, the regular 4 – 6 weekly transfusions, daily Desferrioxamine infusions, associated chronic diseases such as diabetes, growth and puberty failure and early menopause are further added to by blood transfusion complications such as Hepatitis B, Hepatitis C and HIV infection. The psycho social effects on the individual who is chronically sick, their siblings and family are mainfold and in later life the disrupted schooling often leads to employment difficulties.