10 Questions
What is the composition of adult haemoglobin tetramer?
Two α and two β-globins
During which stage of gestation is fetal hemoglobin prevalent?
Second trimester
What is the major cause of sickle cell disease complications in newborns?
Low concentration of fetal hemoglobin
What is characteristic of patients with sickle-cell disease who co-inherited Hereditary Persistence of Fetal Hemoglobin?
A benign phenotype
Which region is responsible for the regulation of globin gene clusters?
Locus control region (LCR)
How is Hereditary Persistence of Fetal Hemoglobin typically caused?
By point mutations in the promoters of the γ-globin genes
What happens to fetal hemoglobin after birth?
It is replaced by adult hemoglobin
Why do newborn babies not manifest sickle-cell disease complications until they are around 6 months old?
'Fetal hemoglobin' is prevalent until after birth
Which type of hemoglobin protects against sickle-cell disease?
'Fetal hemoglobin'
What is the impact of Hereditary Persistence of Fetal Hemoglobin (HPFH) on individuals with sickle-cell disease?
'Benign phenotype'
Learn about a novel genetic therapy for sickle-cell disease involving the disruption of the BCL11A enhancer in haematopoietic stem cells. The therapy aims to correct the βS mutation and cure the disease by promoting homology-directed repair (HDR) in stem cells.
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