Genotype testing helps avoid genetic diseases in children, says expert

The Medical Representative and Director, Bentoluene International Health Concept, Ogunleye Toluwalope, has called on singles to always check their genotype before getting into any marriage relationship to avoid the challenge of sickle cell disorder in their children.

He told newsmen, as the world celebrates Sickle Cell Awareness Month, that Nigeria has the highest population of people living with sickle cell disease, SCD, in the world and “over the years we have spoken to young ones that there is nothing like ‘love at first sight’.

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“Before going into any serious love relationship, knowing one’s genotype is the first thing to be done,” adding that people should confirm their Hb genotype status.

He, however, noted that for couples who are married and stand the risk of having children with sickle cell disorder, “it is possible to change one’s genotype from Hb SS to Hb AA or Hb AS respectively, with the latest development in science.

He noted that before now, bone marrow transplant used to be the only option for transplant, but now we have the options of umbilical cord blood (which is the best), and peripheral blood.

He said that for parents who are both Hb AS or parents who discovered their genotype late and got to know that they are both SCD carrier, there is hope.

He added: “When the mother is pregnant as early as 10 weeks, we have a non-invasive prenatal genetic testing we use in checking the genotype of the baby just from the mother’s blood.

“A little fragments of the baby’s DNA is analysed from the mother’s blood, unlike the previous traditional method CVS (Chorionic villus sampling) and Amniocentesis.

“Those methods are invasive and painful for the mother and there is a possible risk of miscarriage and the cost is much compared to the non-invasive prenatal testing, NIPT, and the gestational age for checking is around 15 to 20 weeks.

“After the genetic test has been done, if confirmed that the baby is not Hb SS we advise the baby’s umbilical cord blood and tissue should be stored for future cure for his or her siblings or family members.”

He noted that in Nigeria, the organisation has changed 10 patients with sickle cell disease and their genotype is no longer HbSS, just with the help of the hematopoietic stem cell present in umbilical cord blood.



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