||reduction in malarial risk; mild anemia
||reduction in malarial risk; carrier of beta thalassemia mutation
rs33950507 is a SNP found in the beta hemoglobin HBB gene, not far from the well-known SNP associated with malarial resistance (rs334, Hb S). This SNP gives rise to the "Hb E", or hemoglobin E, form of hemoglobin as the HBB forms are commonly named. It is found primarily in Southeast Asia.
rs33950507(A) is associated with somewhat increased malarial resistance, and in homozygous (A;A) state, with mild hypochromic microcytic anemia.[PMID 16114182]
[PMID 19087310] Microarray-based estimation of SNP allele-frequency in pooled DNA using the Langmuir kinetic model.
[PMID 22673309] Variation in human genes encoding adhesion and proinflammatory molecules are associated with severe malaria in the Vietnamese.
[PMID 1878422] A Czechoslovakian teenager with Hb E-beta zero-thalassemia [IVS-I-1 (G----A)] complicated by the presence of an alpha-globin gene triplication.
[PMID 3728469] Haplotypes among Vietnamese hemoglobin E homozygotes including one with a gamma-globin gene triplication.
[PMID 6198908] Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene.
[PMID 15481886] The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos.
[PMID 1974422] Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens.