Hemoglobinopathy

Hemoglobinopathies are diseases that are caused by disorders of hemoglobin, so the red blood pigment in red blood cells. The hemoglobinopathies are usually inherited and can cause different serious illnesses, depending on the genetic defect.

Epidemiology

The World Health Organization (WHO ) estimates that about 7 % of the total world population worldwide are carriers of a gene mutation that clinically manifests itself in the form of a hemoglobinopathy. The hemoglobinopathies are the most common hereditary diseases worldwide seen so ever. WHO estimates that each year approximately 300000-500000 children born with a severe congenital form of hemoglobinopathy.

Hemoglobins with a different amino acid sequence

This changes the following types are possible: formation of MetHb, increased oxygen affinity, decreased oxygen affinity, instability, aggregation ( due to reduced solubility) or clinically insignificant changes.

Sickle cell anemia

Due to an amino acid exchange within the protein component may occur serious and frequent hemoglobinopathies: sickle cell anemia. DesoxyHb can now places where it occurs frequently ( venous or peripheral area), aggregating and forming destructive in this way erythrocyte fiber structures. It will now embark on multiple small infarcts caused by microthrombi organ and a hemolytic anemia, the symptoms such as shortness of breath, palpitations, renal failure, joint pain, jaundice, or many other cause. The AS mutation is a substitution of 6- β -glutamic acid by valine whereby the oxygen binding is not disturbed.

This mainly affects black Africans, which the sickle cell anemia evolutionary provides a selective advantage, since it gives the wearer against malaria higher resistance. The disease affects only homozygous carriers.

Disorder of hemoglobin Polypeptidkettenbildung

It 's all about the thalassemia and here again, especially to β - thalassemia. Erythropoesezellen die prematurely and peripheral erythrocytes have shorter life. Homozygous carriers often do not reach adulthood, remain heterozygous for often asymptomatic.