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The evolutionary and clinical implications of the uneven distribution of the frequency of the inherited haemoglobin variants over short geographical distances
Author(s) -
Premawardhena Anuja,
Allen Angela,
Piel Fred,
Fisher Chris,
Perera Laxman,
Rodrigo Rexan,
Goonathilaka Gayan,
Ramees Lebbe,
Peto Tim,
Olivieri Nancy,
Weatherall David
Publication year - 2017
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.14437
Subject(s) - ethnic group , malaria , distribution (mathematics) , consanguinity , variation (astronomy) , geography , altitude (triangle) , demography , ethnic origin , biology , evolutionary biology , genetics , immunology , mathematical analysis , physics , mathematics , geometry , sociology , anthropology , astrophysics
Summary Studies of the frequency of heterozygous carriers for common inherited diseases of haemoglobin in over 7500 adolescent children in 25 districts in Sri Lanka have disclosed a highly significant variation over very short geographical distances. A further analysis of these findings, including their relationship to the past frequency and distribution of malaria, climatic variation, altitude, ethnic origin and consanguinity rates, have provided evidence regarding the evolutionary basis for the variable distribution of these conditions over short distances. It is likely that the complex interplay between malaria and the environment, together with related ethnic and social issues, exists in many countries across the tropical belt. Hence, these observations emphasise the importance of micromapping heterozygote distributions in high‐frequency countries in order to define their true burden and the facilities required for the prevention and management of the homozygous and compound heterozygous disorders that result from their interaction.