Organ Damage in Sickle Cell Disease: What Happens Over Time

We encourage good nutrition — patients can eat whatever they like, there is no prohibition, other than avoiding street food. Any hygienic food eaten at home, with good nutrition and a good amount of protein, is good for transplant outcome — the same as for any ordinary healthy human being.

I will circulate full information from my lab on the prerequisites for an HLA sample — what temperature it should be kept at, how many hours it can take to transport, and how many ml of blood sample or a buccal swab is required, so the sample can safely reach India for testing. Laboratory networks such as Metropolis and Lancet already exist in Kenya, Ghana and Uganda, though coverage is patchier in countries such as Nigeria and the DRC.

The stem cell itself has no pathology — it is the mother cell present in every human being that produces blood, the haematopoietic stem cell. Sickle cell disease is a defect in a single gene, a single base-pair defect in the beta-haemoglobin chain, so it is the haematopoietic stem cell that is defective, and we need to replace it with a healthy one. As for effects: about 70% of patients have no major complications and 30% will have graft-versus-host disease. In the acute phase there can be neutropenia leading to sepsis, mucositis (mouth ulceration causing pain, vomiting, diarrhoea), and haemorrhagic cystitis (blood in urine from the conditioning chemotherapy or radiation), which usually recovers with hydration and prevention. Veno-occlusive disease of the liver can also occur. The two most important complications are acute and chronic graft-versus-host disease — chronic GVHD causes dry eyes, dry skin, dry mouth and lung problems, and impairs quality of life. Infertility is another complication, meaning inability to reproduce, not sexual dysfunction — sexual and social life are not affected after transplant, only ovarian or testicular failure affecting spermatogenesis and ovulation.

No. Sickle cell disease is a gene defect — there are sickle cell carriers and sickle cell disease patients. Disease means both parents were carriers; a carrier has only one gene affected and can pass it to their children if their partner is also a carrier. Other than gene therapy, there is no treatment for asymptomatic carriers — no cure or treatment is needed, because they reach adulthood and live a normal life. Since there is no phenotypic expression of the genotypic disorder, no treatment is warranted, because every treatment carries a risk of morbidity and mortality.

We advise the youngest age should be more than two years — doing a transplant very early, at 6 months to 1 year after only one crisis episode, children cannot tolerate the required immunosuppression properly, though on an emergency basis it is sometimes done for leukaemia. For sickle cell disease and thalassemia, transplant should be offered after 2 years of age. There is no upper age cutoff — every patient has the right to live, whatever the outcome percentage; the decision to go for transplant depends on the patient and family, weighed against quality of life.

42 years for men and 48 years for women.

About 11% of patients will have an overt stroke before age 18, a third will develop a silent stroke by age 15, and almost 24% could be affected by stroke over their lifetime. A Transcranial Doppler scan can identify children at elevated risk before a stroke occurs.

No. Once neurological injury causes cognitive dysfunction or focal deficits, it cannot be recovered even after a successful transplant, which is why early referral matters.

Acute chest syndrome recurs, and by age 40 pulmonary arterial hypertension is present in 40% of patients, leading to right heart failure.

Kidney function deteriorates progressively, avascular necrosis causes bone death and severe disability, autosplenectomy leaves patients at very high infection risk, and regular transfusions cause iron overload.