Question 1

What is the average cost of a stem cell transplant for sickle cell disease?

Dr. Divya Doval · Accepted Answer

It depends on the type of donor. For a matched sibling donor, the cost is around 20,000 to 24,000 US dollars, whereas it goes up to around 40,000 to 45,000 for a haploidentical stem cell transplant.

Question 2

What medications should be avoided by people with sickle cell disease? What is the role of hydration in sickle cell disease?

Dr. Divya Doval · Accepted Answer

The role of hydration is immense. Anyone who is going to have a pain crisis, or is having one, benefits greatly from hydration. I do not think there are any particular medications that must be avoided.

Question 3

What are your absolute indications for bone marrow transplant in sickle cell anaemic children?

Dr. Divya Doval · Accepted Answer

Our indications are changing every day, because with the advent of haploidentical stem cell transplant, donor availability and outcomes have improved so much that more families are willing to take the risk. For us, indications include any child with a single episode of stroke, a single episode of chest crisis, or multiple episodes of pain requiring hospital admission.

Question 4

What preventive measures are possible to avoid complications such as avascular necrosis?

Dr. Divya Doval · Accepted Answer

Repeated pain crisis is really the driver, and there is no way around it beyond hydration and treating the pain crisis promptly, because recurrent crises can cause these infarcts in the bones, and unfortunately we sometimes cannot prevent them. Fluids, hydroxyurea and supportive care every time there is a pain crisis are the key measures.

Question 5

What is the pathophysiology of stress as a factor or trigger of sickle cell disease symptoms?

Dr. Divya Doval · Accepted Answer

Stress on the body can be anything. Fever is a stress. Dehydration is a stress to the body. Similarly, any hypoxic condition, such as being in a high-altitude area where oxygen levels are lower, contributes to stress on the body.

Question 6

What is the management of priapism in sickle cell disease patients?

Dr. Divya Doval · Accepted Answer

The management is first hydration, control of the pain, and the supportive measures normally used for sickle cell disease, like pain management, fluids and oxygen if levels are low. If an episode lasts more than four hours, an urgent urology review is needed for aspiration and irrigation of the penis, and surgery in refractory cases. If it does not settle, we may need blood transfusion.

Question 7

Why and how is sickle cell disease not a disease?

Dr. Divya Doval · Accepted Answer

It was sickle cell trait that I described as not being a disease. Sickle cell disease has a whole spectrum, and sometimes there may be no manifestations at all, but once the pain crises and other manifestations start, we definitely have to treat it as a disease.

Question 8

What is the success rate of managing sickle cell disease with stem cell transplant?

Dr. Divya Doval · Accepted Answer

Stem cell transplant has a very good outcome, especially in younger children. Even with a haploidentical stem cell transplant, we have reported outcomes between 70 to 80 percent overall survival, and matched sibling data was close to 90 percent. It is a one-time treatment and the cure is for life, whereas managing sickle cell disease is an ongoing process, one complication after another, and cognitive dysfunction from silent strokes can build up over time even with careful management. Doing the transplant at a younger age gives a better outcome.

Question 9

What is the management of vaso-occlusive crisis in sickle cell disease? Is there a curative treatment for it?

Dr. Divya Doval · Accepted Answer

There is no definitive curative treatment for vaso-occlusive crisis. We can only support with fluids, painkillers and oxygen if levels are low. Blood transfusion is possible if the pain is excessive and not being controlled.

Question 10

Under what age is stem cell transplant effective?

Dr. Divya Doval · Accepted Answer

There is no age limit. We have transplanted adults as well. The risk simply increases with age and the outcomes are not as good, but otherwise transplant can be done at any age if the organ systems are fine. With age, the risk of stroke and of the liver and kidneys being affected increases, which then reduces eligibility for transplant.

Question 11

What is the overall cost of bone marrow transplant at your facility?

Dr. Divya Doval · Accepted Answer

If it's a matched sibling donor, an HLA-matched sibling, it is somewhere between 20,000 and 24,000 US dollars. If a matched sibling is not present and it is a half-match transplant, the price goes up to around 35,000.

Question 12

What is the role of urine alkalisation in the management of vaso-occlusive crisis?

Dr. Divya Doval · Accepted Answer

I think alkalinising the urine overall helps with the pain, alongside hydration, prompt pain relief and treating any trigger.

Question 13

What is the management of sickle cell disease in pregnancy?

Dr. Divya Doval · Accepted Answer

Hydroxyurea cannot be given in the first three months of pregnancy, which can be challenging, so we make sure the patient is well hydrated and stays warm, and we try to prevent all sorts of crisis through the pregnancy. In the second and third trimesters hydroxyurea can be started again if required, and transfusions can be done if needed. Morbidity and mortality are high, and every patient should be counselled before starting a family that the risks for both mother and baby are high, since a crisis during labour or childbirth can be quite difficult to manage.

Question 14

What is the symptomatic treatment for chronic jaundice in sickle cell disease, especially in children who have never had a blood transfusion?

Dr. Divya Doval · Accepted Answer

This jaundice happens because the red blood cells are breaking down. It is chronic, and these red cells will keep breaking, so a lot of patients will have a high bilirubin, but there isn't a specific treatment for the jaundice itself. We can reduce the underlying haemolysis by starting hydroxyurea, but the jaundice itself does not otherwise affect most patients. If there is chronic jaundice, we do need to find the cause by checking for hepatitis B and C and other infective causes, to make sure it isn't due to something else.

Question 15

From an epidemiological point of view, what makes Africa more affected than other countries in the world?

Dr. Divya Doval · Accepted Answer

I think the whole geographical distribution is just a genetic basis. A certain gene pool has that gene mutation, so depending on the geographical area, that population is more likely to carry the mutation and have the disease. The gene is common in Africa because carriers are protected against severe malaria, so over generations it became widespread where malaria is common.

Question 16

What is the role of consanguineous marriage in sickle cell disease?

Dr. Divya Doval · Accepted Answer

As I mentioned, the inheritance is autosomal recessive. In consanguineous marriages, where the two partners may be related in some way, the chances of both parents being carriers are quite high, since it may run in the family. When both parents are carriers, the chance of having a child with sickle cell disease is 25 percent, so consanguineous marriage increases the risk of autosomal recessive diseases like this one.

Live Discussion with Dr. Divya Doval