| Global
epidemiology of haemoglobin disorders and derived service indicators
Introduction
Inherited haemoglobin disorders (sickle-cell disorders and thalassaemias)
were originally characteristic of the tropics and subtropics but
are now common worldwide due to migration.1–4 Since they can be
controlled cost-effectively by programmes that integrate treatment
with carrier detection and genetic counselling, WHO has recommended
global development of these services.5,6 However, service development
can be unexpectedly challenging, because it requires inclusion of
genetic approaches in health systems.
The diversity and heterogeneous distribution of
haemoglobin disorders make it necessary to develop strategies at
the country level. To assist policy-makers, we use haemoglobin disorders
as an example to show how genetic epidemiological data can be interpreted
in terms of administrative boundaries (and/or ethnic group) and
practical service indicators. The work was initiated for WHO7,8
and further developed in the United Kingdom,9,10 where it is used
for local needs-assessment.11 Global data are available at: www.chime.ucl.ac.uk/work-areas/cab/.
Genetic terminology can be impenetrable to non-specialists.
In this paper, we use terms proposed for more general use by the
Professional Education for Genetic Assessment and Screening (PEGASUS)
Genetic Education Programme of the United Kingdom National Screening
Committee:11 haemoglobin disorders include sickle-cell disorders
and thalassaemias; haemoglobin gene variants are haemoglobinopathies;
significant variants are gene variants that can cause a serious
disorder; carriers are healthy heterozygotes; people with combinations
of gene variants are homozygotes and compound heterozygotes; and
α thalassaemia major is haemoglobin Barts hydrops fetalis.
Source
Interviews
We plan to do einterviews with MBBS doctors to understand 4 things
1) Tests or questions you ask in first few meetings
2) What it means in medical terms
3) What it means in non medical terms
4) What should the patient or care takers do
We might interview Aurvedic doctors, homeopathic doctors, Yoga teachers
on this health issue
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