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CitationARPACI A,ELMACIOĞLU S,ÜNLÜ B (2019). Hemoglobınopathies. International Journal of Medical Biochemistry, 2(Suppl. 1), 26 - 26.
Hereditary hemoglobin disorders with thalassemia and sickle-cell anemia are the most common monogenic diseases in the world. It is estimated that about 1-5% of the global population is the carriers of a genetic thalassemia mutation. Hemoglobinopathies are among the most common hereditary blood diseases also in Turkey and are an important health problem especially in the southern and western part of Turkey. The beta thalassemia carrier frequency in Turkey is 2.1% and there are about 1.3 million carriers and around 4.500 patients. When the frequency of carriers is considered, 300-400 sick children are estimated to be born each year, which causes financial and emotional harm to the families and society. Even though Cooley and Lee described the pathophysiology of thalassemia syndromes 90 years ago, the management of these diseases is still complex and requires a gradual process. The high frequency of hereditary hemoglobin variants in some regions may reflect the heterozygous resistance to malaria and with further studies, the resistance was determined to be in alpha, beta thalassemia and hemoglobin E diseases.
SourceInternational Journal of Medical Biochemistry
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