Switch To Produce Fetal Hemoglobin Discovered
Sickle cell anemia is a genetic disease caused by faulty hemoglobin production. This dysfunction is caused by a single nucleotide change in the hemoglobin gene, which in turn substitutes glutamic acid to valine in the hemoglobin protein. When this happens, the proteins become sticky and form crescent-shape disfigured red blood cells.
The major symptoms of this disease are chronic painful fatigue episodes. There is pain in abdomen and bones, often too debilitating to even move. There are medicines that attempt to ease the symptoms of sickle cell anemia, but the hope of a cure was in the last few decades sought right at molecular level where the fetal hemoglobin transforms into adult hemoglobin triggering the dysfunction.
The Role Of BCL11A In The Production Of Fetal Hemoglobin
The onset of sickle cell anemia is noted as soon as the transition from fetal hemoglobin is made to adult hemoglobin. According a report published by Howard Hughes Medical Institute (HHMI) a new research study where three leading medical schools participated led by investigator Stuart H. Orkin of Howard Hughes Medical Institute (HHMI) of Children’s Hospital Boston (other two participants are Dana Farber Cancer Institute and Harvard Medical School) identified a protein by the name BCL11A, which when silenced (or switched off) can re-start the production of fetal hemoglobin and thereby counter the onset of sickle cell anemia.
A paper was published by Jian Xu, an HHMI and Helen Hay Whitney fellow revealing the role of the protein BCL11A as the primary factor in the reversing of the adult hemoglobin to fetal hemoglobin. Stuart H Orikn states, “I think we’ve demonstrated that a single protein in the cells is a target that, if interfered with, would provide enough fetal hemoglobin to make patients better.”
This protein binds to DNA and while regulating gene expression, it plays the role of a repressor that influences the reversal from adult hemoglobin to fetal hemoglobin. The good news here is that there are no toxic effects resulting from the reversal. Hence, the patients who have higher levels of fetal hemoglobin get rid of the pain-fraught disease, without any other side effects. This is why this therapy is considered better than any available drug therapy. Orkin points out that, “The more fetal hemoglobin you have, the better. The cell doesn’t care if it’s producing fetal hemoglobin or not.”
This scientific breakthrough might come in handy even for those who suffer from other types of blood disorders such as thalassemia major.