First Observation of Hemoglobin Crete in Combination with Hemoglobin’s in a Woman with Avascular Necrosis of the Knee

Submit Manuscript | http://medcraveonline.com Inherited haemoglobin disorders are the most frequent monogenic diseases worldwide. Seven per cent of the world’s population is estimated to carry a mutation in the beta (β) globin gene (HBB) (GenBank genomic reference sequence NG_000007.3), in a heterozygous state (carrier), while thousands of newborns are affected by a severe haemolgobin disorders. Hemoglobin disorders comprise the α and β thalassaemia, sickle-cell disease (SCD) and other hemoglobinopathies. Beta-thalassaemia (β-thalassaemia), along with sickle-cell disease (SCD), are the most frequent genetic disorders in Greece, where the mean frequency trait is estimated at 7-8%, and 1-2%, respectively. The majority of β-thalassaemia genetic defects are point mutations of various frequencies in each ethnic population. In Greece, the most prevalent molecular defect is the IVS I-110 (G>A) or HBB: c.9321G>A mutation, followed by CD39 (C>T) or c.118C>T, IVS I-1 (G>A) or c.92+1G>A and IVSI-6(C>T) or c.92+6T>C. Hemoglobin Crete is an abnormal hemoglobin of beta chain with high oxygen affinity and neutral and unstable as electrophoretic.