Sickle Cell Disease: Can genetic variability influence pregnancy outcomes?

Area of Science:

• Genetics
• Obstetrics
• Hematology

Background:

• Sickle Cell Disease (SCD) is a severe genetic disorder prevalent in Sub-Saharan Africa.
• Pregnancy in women with SCD is linked to increased risks of severe complications and adverse outcomes.
• Genetic factors, including HBB haplotype and alpha-thalassemia, influence SCD phenotype variability.

Purpose of the Study:

• To identify pregnancy complications and severe outcomes in women with SCD.
• To investigate the association between genetic variability and these adverse outcomes.

Main Methods:

• A cohort of 162 pregnant women with SCD in Luanda, Angola, was studied.
• Clinical, hematological, biochemical, and genetic data were collected.
• Genotypes included SCD, HBB haplotype, and -3.7 kb alpha-thalassemia.

Main Results:

• The Central African Republic (CAR) haplotype was most prevalent (87% homozygous).
• CAR/CAR women had >9 times higher odds of premature birth; homozygous -3.7 kb alpha-thalassemia carriers had >4 times higher odds of livebirth.
• Over 50% of infants had low birth weight, 52.7% were premature, and 68% of pregnancies had severe maternal complications.

Conclusions:

• Pregnancy in SCD carries a high burden of adverse outcomes.
• Individualized and closer healthcare is crucial for SCD pregnancies, particularly in low- and middle-income countries.