the two genes vary in 5' and 3' untranslated regions. Furthermore the contain different intron structures.
Yes, there are HbA1a, HbA1b, as well as HbA1c. The coding breakdown is given below. When hemoglobin is exposed to higher than normal levels of glucose over time (blood sugar) it binds with it, this is called glycation. And since the normal life span of red blood cells is about 120 days, glycated hemoglobin can be used to assess the average level of blood sugar during the preceding three months of the test. Hb - Hemoglobin HbA - Adult hemogolbin (as contrasted to fetal hemoglobin, HbF) HbA0 - non-glycated hemoglobin. HbA1 - glycated hemoglobin HbA1a1 - Glycation with Fructose 1, 6 diphosphate HbA1a2 - Glycation with Glucose 6 phosphate HbA1b - Glycation with an unknown reaction partner HbA1c - Glycation with D glucose L HbA1c - denotes the labile HbA1c, or the aldimine fraction S HbA1c - denotes the stable HbA1c, or the ketoamine fraction.
Human hemoglobin consists of four polypeptide chains: two alpha (α) and two beta (β) chains. The genes responsible for these chains are HBA1 and HBA2 for the alpha chains, and HBB for the beta chains. Therefore, there are three genes associated with the four polypeptides in hemoglobin.
Alpha thalassemia was first identified in the 1950s by a group of researchers, including Dr. Thomas C. Chiu and Dr. William A. C. Wong, who studied the genetic basis of the disorder in affected families. The condition is linked to mutations in the HBA1 and HBA2 genes that affect hemoglobin production. While no single individual is credited with "discovering" alpha thalassemia, it was through collaborative research in the field of hematology and genetics that the condition was characterized and understood.
Different types of Alpha-Thalassemia in the population primarily arose from genetic mutations in the HBA1 and HBA2 genes responsible for producing alpha-globin chains in hemoglobin. These mutations are believed to have originated in regions where malaria was prevalent, as carriers of the disease often had a selective survival advantage. Over time, these mutations spread through various populations, leading to the different forms of Alpha-Thalassemia observed today. The global distribution reflects historical migration patterns and local adaptation to environmental pressures.