Search Tag: monogenic disorder
2025 28 Apr
Sickle cell disease (SCD) is a group of red blood cell abnormalities that are inherited. The disease results from mutation in the HBB (haemoglobin, beta) which helps in making the beta-globin protein. Heterozygotes produce a mixture of normal haemoglobin and sickle haemoglobin. Homozygotes only produce abnormal beta chains that make sickle haemoglobin,...Read more