Abnormal hemoglobins
(overview)

Abnormal hemoglobins are autosomal-dominantly inherited hemoglobin structural variants that result from changes in the coding sequences of the globin genes, leading to a modified amino acid sequence and thus a modified mobility of the globin chain in hemoglobin differentiation. The most significant abnormal hemoglobins are alterations in the amino acid sequence of the α- and β-globin chains and result in a tendency to aggregate with sickle cell formation (e.g., HbS), impaired hemoglobin synthesis (e.g., HbE ), unstable hemoglobin with a tendency to precipitate and hemolysis (e.g. Hb Cologne), or impaired oxygen transport function with polyglobulia (e.g. Hb Johnstown) or cyanosis (e.g. HbM). The clinical picture of these variants depends on the position and type of amino acid exchange and ranges from clinically harmless incidental findings to life-threatening conditions.

HbS, HbC, HbE and HbD are among the most important and most frequent abnormal hemoglobins worldwide and are also the most common in Germany. The MLL provides more information on the following entities: