Hemoglobinopathy
| Classification according to ICD-10 | |
|---|---|
| D58.2 | Hemoglobinopathy |
| ICD-10 online (WHO version 2019) | |
Hemoglobinopathies are diseases that are caused by disorders of hemoglobin , the red blood pigment in red blood cells. Hemoglobinopathies are usually inherited and, depending on the genetic defect, can cause symptoms of different severity.
Epidemiology
The World Health Organization (WHO) estimates that around 7% of the entire world population are carriers of a gene mutation that manifests itself clinically in the form of hemoglobinopathy. Hemoglobinopathies are therefore the most common hereditary diseases seen worldwide. According to WHO estimates, around 300,000 to 500,000 children are born with a severe congenital form of hemoglobinopathy each year.
Hemoglobins with a different amino acid sequence
Changes of the following types are possible here: formation of methemoglobin , increased oxygen affinity, decreased oxygen affinity, instability, aggregation (due to reduced solubility) or clinically insignificant changes.
Sickle cell anemia
An exchange of amino acids within the protein component can lead to the most serious and common hemoglobinopathy: sickle cell anemia . DesoxyHb can now aggregate in places where it occurs more frequently (venous or peripheral area) and in this way form fibrous structures that destroy erythrocytes. There are now entering multiple small by micro- thrombi organ caused infarction and haemolytic anemia, which symptoms such as shortness of breath, palpitations, renal failure , joint pain, jaundice , or many other causes. The amino acid mutation is a replacement of glutamic acid by valine at position six of the β-subunit of hemoglobin, but this does not disrupt oxygen binding.
Black Africans in particular are affected, for whom sickle cell anemia gives a selection advantage in evolutionary terms, as it gives the carrier greater resistance to malaria. The disease only affects homozygous carriers.
Disturbance of hemoglobin polypeptide chain formation
This is mainly about thalassemia and here again mainly about β-thalassemia. Erythropoiesis cells die prematurely and peripheral erythrocytes have a shorter lifespan. Homozygous carriers often do not reach adulthood, while heterozygous carriers often remain asymptomatic.
Individual evidence
- ↑ DJ Weatherall: Hemoglobinopathies worldwide: present and future. In: Curr Mol Med. 2008 Nov; 8 (7), pp. 592-599. PMID 18991645 .
Web links
- Elisabeth Kohne: Hemoglobinopathies: Clinical Appearances, Diagnostic and Therapeutic Notes . In: Dtsch Arztebl Int . No. 108 (31-32) , 2011, pp. 532-540 ( review ).
