Clinical and molecular feature...
Musculocontractural Ehlers-Danlos s...
The population of Cambodia (in 2019) was approximately 16 million with an annual growth rate of
1.4% in which the prevalence of hemoglobinopathies was estimated at about 40.0% (range
30.0–50.0%) to be carriers, and 2240 annual births for b-thalassemia major (b-TM). The overall preva
lence of b-thalassemia (b-thal) and a-thalassemia (a-thal) were 40.9 and 39.6%, respectively. Currently,
the specific epidemiological data regarding the abnormal gene frequency/mutations among different
ethnic groups is unknown. In 2011, national guidelines for the Clinical Management of Patients with
Thalassemia in Cambodia were developed and published by the Ministry of Health (MoH). Packed red
cells (PRCs) are available at most referral hospitals (provincial hospitals). Oral iron chelators [deferiprone
(DFP) and deferasirox (DFX)] are only available from a private pharmaceutical company. The future
needs for Cambodia are to develop a national policy on the prevention or control of b-thal and a-thal,
and a national registry of patients with thalassemia, to determine the gene frequency of a-andb-thal
in different regions of the country, and to place the iron chelators on the list of essential medicines.