Hemoglobinopathies in pregnancy

Hemoglobinopathies represent a unique set of genetic disorders. Formerly, many affected individuals did not survive to childbearing age. Affected women now commonly reach childbearing age and desire pregnancy. Successful pregnancy is possible in many cases with carefully coordinated obstetric and medical management. Genetic screening and prenatal diagnosis is an important aspect of prenatal care in these disorders. DNA mutation analysis offers rapid and accurate fetal diagnosis. Pregnancy also offers a unique situation in that cord blood has become a valuable source of stem cells for transplant. This allows the potential role of the unaffected fetus as a donor for affected siblings. In addition, it was proposed that the fetus may be able to act as a donor of stem cells for an affected mother. Despite current screening recommendations,many couples are not aware that they are carriers; it is common for a child to be born with an unexpected, serious hemoglobinopathies. For this reason, newborn screening programs have been introduced in most high-risk areas. Early diagnosis can facilitate implementation of proper preventive health measures, education of the parents regarding their carrier status, and provide the child with ongoing comprehensive care.