The next laboratory to be set up was the molecular genetics laboratory, which was initially involved in research on the globin genes, haemoglobinopathies
, the Y chromosome, mitochondrial DNA, and the genes for albinism and cystic fibrosis.
Risk factors for haemoglobinopathies
include natural selection, consanguinity or marriage between close relatives, epidemiological/demographic and population immigration or movement from the poorer countries into richer countries.
are considered the most common monogenic disorders.
The neonatal programme currently tests newborns for phenylketonuria, congenital hypothyroidism, sickle cell anaemia, congenital adrenal hyperplasia and haemoglobinopathies
One national program that can transform the scenario of medical genetics in India could be the control of thalassemias and haemoglobinopathies
In malarious areas, the high frequency of haemoglobinopathies
, such as sickle-cell
G6PD deficiency, pyruvate kinase deficiency) and haemoglobinopathies
2] should be investigated to diagnose haemoglobinopathies
as well as other cardiorespiratory conditions.
The findings were presented this week during the 10th International Conference on Thalassaemia and Haemoglobinopathies
& 12th International TIF Conference for Thalassaemia Patients and Parents in Dubai, United Arab Emirates.
alone represent a health/disease burden comparative to that of communicable and other major diseases.
, such as thalassaemia, and myeloproliferative disorders, which result in splenomegaly, predispose to splenic infarction.
Guideline: the laboratory diagnosis of haemoglobinopathies
dk Dr Lorna Bennett Clinical Service Manager Haemoglobinopathies
The Northern Health Centre 580 Holloway Road London N7 6LB United Kingdom Phone: +44 20 74 45 80 35 E-Mail: lorna.
alone represent a health burden equivalent to that of communicable and other major diseases.
are a group of autosomal-recessive inherited human disorders prevalent in many parts of the world.