All of the mutations for sickle cell disease happens at 14p15.4. (OMIM). However, there are different types of mutation that can occur in the same place, and as a result, have similar effects. For example, the most common mutation is 141900.0243. This mutation causes the HBs variant of sickle cell disease, which is common in people who have traditionally lived in a tropical climate. Another variant is the HBc disease, which occurs in children. There have also been other mutations described, such as sickle cell (SE) disease, SC(Arab) disease, and SC (Harlem) disease which all have their own mutations.
There is a clear genotype/phenotype association. The location that the mutation occurs is essential to the hemoglobin structure, and as a result, any mutation that happens in that part of the gene is likely to have the phenotype of sickle cell disease, although there are some variants of the disease that may be different.
There are many factors that increase and decrease the severity. For genetic modifiers, having a Bantu/CAR type or Benin type of the modifiers is more likely to have more severe symptoms and more likely to be hospitalized. This is the same with low levels of Hbf, which can mitigate the effect of HBs. a high number of alpha-globin genes is also likely to make the disease worse. Higher wind speed, humidity, and pollution such as PM are also more likely to cause the disease to be worse. In addition, a problem with access to health care is also likely to cause the disease to worsen.
Recent comments