rs35854892

This is a variant in the HBB gene that changes a leucine to an arginine.

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ClinVar annotation

Uncertain Significance★☆☆☆
2 submitters4 publications

HEMOGLOBIN OLMSTED

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Research that mentions this SNP (1)

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Case reportUnknown

This is a collection of letters to the editor in a hematology journal discussing clinical cases including hemoglobin Olmsted hemolytic anemia, discordant lymphoma with identical immunoglobulin gene rearrangement, and complications of splenectomy in unstable hemoglobin disorders. The letters describe disease presentations and clinical outcomes rather than genetic association analyses.

Traits studied:Chronic lymphocytic leukemiaChronic myelogenous leukemiaHemolytic anemiaNon-Hodgkin lymphomaUnstable hemoglobin disorder
DOIMetascience Observatory

About HBB

The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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