The 2015 Sickle Cell Surveillance study showed that out of the entire population of Uganda, 13.3% are carriers with a Sickle Cell trait.
This condition, experts say, can only be detected after a Sickle Cell test is made to ascertain whether one carries the SCD gene or not and as such, individual responsibility to have the test made is highly encouraged.
Dr. Nicholas Nanyeenya, the programs officer for the Sickle Cell program at Ministry of Health said that as long as one lives, they should test for SCD and get to know their status.
He made his remarks during the Media Sickle Cell Training at Imperial Royale Kampala.
“Often when we go out to screen people, we have realised that one out of every seven has a gene that brings about SCD. This means that even the chances of marrying themselves are high. Therefore, everyone ought to test for the sickle cell gene before planning to have children,” he said.
Who are Carriers?
Dr Nanyeenya explained that carriers are people who have one gene for SCD. They carry the disease, without actually exhibiting signs and symptoms of it.
“So, for you to know whether you have the gene or not, you need to do a sickle cell test. When you realise that you have the gene that brings the disease, then you avoid getting a partner who is also a career, because you can produce a child with the disease,” he said.
Sickle Cell affects the Red blood cells, which carry oxygen in the body. The disease therefore makes the once doughnut shaped red-blood cells to have a ‘Sickle-like’ shape (C- shape) and thus unable to perform their functions in the body.
Dr. Nanyeenya further explained that upon fertilisation to make the embryo, genes are inherited by the child.
“Instead of getting a normal gene (normal haemoglobin), a child gets an abnormal gene, which is a sickle cell gene.
Carriers have a make up of HB AS. ‘A’ is the normal and dominant gene; and the Sickle Cell is abbreviated as ‘S’, which is the weak gene.
“The S gene can’t surface when there is an ‘A’. That is why careers remain normal because this gene (S) is suppressed by the dominant one, making one live without signs. This means that everyone is a potential career unless tested,” he said.
He added that people living with SCD (sicklers) have a genetic make-up of HB SS meaning that they inherited the Sickle Cell gene from both parents.
Signs, Symptoms and Treatment of SCD
Dr Robert Opoka, a paediatrician consultant and clinical researcher said that in cases of high malaria, there are high SCD occurrence chances.
He also said that there are about 25,000 children born with SSA (Hb SS) annually and 70-80% of these die before their 5th birthday, accounting for a percentage of 16.2% of all the children who die annually.
Dr. Opoka said that the patients present with vaso-occlusive crises (too much body pain, infections, Jaundice (yellow eyes), stroke, organ failure among others.
SCD treatment depends on its presentation.
The new therapies include stem cell transplantation, gene therapy, Hydroxyurea, and Immunization.
Improving Sickle Cell Care
Evelyn Mwesigwa, a Civil Society representative said that civil society organisations do partner with the Ministry of Health to help in raising awareness especially to the parents; teaching them how to manage their children at home.
“If the parent is not taught on the right way to give medication, chances of this child being sick will increase,” she said.
Dr Charles Kiyaga, National Sickle Cell Program Coordinator revealed that the Ministry of Health intends to partner with Novartis, a pharmaceutical company that manufactures the drugs that manage sickle cell disease, to improve Sickle cell Care.
It should be noted that Hydroxyurea, a sickle cell drug was registered last year but has been accessed mostly in private pharmacies.
Dr. Kiyaga said that plans are underway and there’s a procurement happening through the National Medical Stores to have Hydroxyurea in public facilities.
“We are working with this same pharmaceutical company, Novartis, because it’s one of the leading globally and leading producers of hydroxyurea. We are working with them through this collaboration to make sure that the cost of the drug is reduced drastically to make it affordable where one can buy a full month’s dose at a cost of about 3-5 dollars, and also provide paediatric formulations,” he said.
The collaboration will be launched on Wednesday October 28, 2020.