Why genotype testing matters before marriage

Beyond love and commitment, experts now advise couples to consider genotype testing before marriage to understand the risk of passing inherited blood disorders to their children.

With children often part of family plans, medical experts say knowing one's genotype can help couples make informed decisions about their future and understand the risks of inherited conditions such as sickle cell disease.

“It is advisable to consider genotype testing before making decisions about marriage,” says Moses Elvis Oburah, a Hemato-Oncology Pharmacist and Chairperson of the Medical Advisory Committee (MAC) of the Kenya Haemophilia Association.

Sickle cell disease is an inherited disorder that affects red blood cells. The cells become abnormally shaped and can block blood flow, causing severe pain, anaemia, infections and organ damage.

Sickle cell health advocate Eunice Owino, founder and Executive Director of Sickle Cell Uhuru Trust, says the disease is inherited from both parents.

A child develops sickle cell disease, commonly known as HbSS, when they inherit a sickle cell gene from both parents. A person who inherits one sickle cell gene and one normal gene has sickle cell trait, or HbAS. People with the trait usually do not have the disease but can pass the gene to their children.

When two people with sickle cell trait have a child, there is a 25 per cent chance in each pregnancy that the child will have sickle cell disease, a 50 per cent chance of inheriting the trait and a 25 per cent chance of inheriting neither.

Owino says the disease is often associated with regions where malaria has historically been common. People who carried one copy of the sickle cell gene had some protection against severe malaria, allowing the trait to persist in populations.

Speaking on Spice FM on Friday, September 18, Owino said the link with malaria did not mean the disease was caused by malaria.

“Sickle cell disease is a condition that you inherit from both your parents,” she said. “The reason we associate it with malaria is because, historically, malaria was widespread and many people died from it. Those who survived were more likely to carry one altered gene, which offered some protection against severe malaria,”

Oburah said genotype testing can help couples understand their risk and seek genetic counselling before having children.

He added that testing services are available in Kenya, but more investment is needed in public awareness, early diagnosis, treatment and long-term care.

The World Health Organisation estimates that 7.74 million people were living with sickle cell disease globally in 2021. Nearly 80 per cent of cases occur in sub-Saharan Africa.

The disease contributes to significant childhood mortality, particularly where diagnosis and treatment are delayed. WHO says interventions such as disease-modifying medicines and vaccination can reduce complications.

In Kenya, Ministry of Health data show that about 14,000 children are born with sickle cell disease each year. Between 50 per cent and 90 per cent do not survive beyond their fifth birthday, largely because of gaps in newborn screening and delayed diagnosis.

Oburah called for greater community awareness and better access to comprehensive sickle cell services.

“Every county should have more than one comprehensive facility because, of the 47 counties in Kenya, there are 17 high-disease-burden counties that the Government of Kenya has mapped out,” he said, adding that these counties are mainly in the Coast, Western Kenya, Nyanza and Nairobi regions.

Knowing one's genotype early can help couples seek medical and genetic counselling and understand their options as they plan their families. “Silence breeds stigma but awareness saves lives”.