Hemoglobinopathies Worldwide: Present and Future

Abstract

The genetic disorders of hemoglobin, the commonest monogenic diseases, occur at some of their highest frequencies in the developing countries, particularly those of Sub-Saharan Africa and Asia. Although progress towards their control and management continues to be made, the prospects for curing them, apart from marrow transplantation, remain uncertain. In many countries expertise and facilities for their control are extremely limited. Although a great deal can be done to help the situation by developing further North/South and South/South partnerships for disseminating better practice, the major problem for the future lies in the unwillingness of governments and international health agencies to accept that the hemoglobinopathies represent a health burden comparative to that of communicable and other major diseases. However, preliminary analyses suggest that, at least in the case of Asia, this may not be true. Further work of this type, together with more detailed frequency and economic data, is required to provide solid evidence for the health burden posed by the hemoglobin disorders, particularly in the developing world. Unless this is done, the increasingly large populations of patients with these diseases will continue to be neglected.

Plasma zinc, vitamin B12 and α-tocopherol are positively and plasma γ-tocopherol is negatively associated with Hb concentration in early pregnancy in north-west Bangladesh

“…However, despite diets with apparently poor Fe availability (7) , recent data from our study site in north-western Bangladesh suggest that Fe deficiency is actually uncommon, with women likely consuming substantial bioavailable Fe through well water (8) . Among other factors that can lead to anaemia, including parasitic infections (9) and genetic disorders affecting erythrocyte production and survival (10) , nutritional deficiencies in addition to that of Fe can negatively impact erythropoiesis. Vitamin A (retinol) deficiency impairs erythrocyte differentiation and proliferation (11) .…”

Burden, genotype and phenotype profiles of adult patients with sickle cell disease in Cape Town, South Africa

“…[33] A similar increasing trend of SCD in countries previously not affec ted by the disease has been observed in Ireland, [34] Italy, [35] Germany, [36] England [37] and France. [38] There fore, the evidence that the SCD burden is comparable to that of communicable diseases and other major global diseases such as hypertension and diabetes [2] will have increasing resonance. The marked increase…”

“…SCD is an accepted worldwide health problem that is comparable to other major global diseases such as diabetes, hypertension and communicable diseases. [2] Sub-Saharan Africa (SSA) has the highest burden of SCD disease, with in excess of 300 000 new affected births annually, accounting for 80% of all annual affected child births globally. [3] In spite of the high burden of disease in SSA, SCD is often associated with limited to poor medical resources, infrastructure and quality of care, so estimates of neonatal and childhood mortality remain high, with up to 90% of affected children dying by 5 years of age.…”

Human genetics in Johannesburg, South Africa: Past, present and future

“…[19] Furthermore, haemoglobinopathies alone comprise a health burden similar in scale to that of communicable and other major diseases, particularly in sub-Saharan Africa. [20] Many inherited disorders can now be prevented and the burden of genetic diseases ameliorated with appropriate programmes. The WHO [21] recommended that these services should be promoted and offered as an integral part of basic healthcare.…”