SICKLE CELL ANAEMIA

It was a tiring day, and I was attending to the last of my patients in my evening haematology clinic. I was eager to finish and go home. Just as my last patient with acute myeloid leukaemia (AML) walked out, I got a phone call from my receptionist about another young man who wished to see me. I was tempted to refuse, having been exhausted after my days’ work. After all, this was an unscheduled appointment!

The young man apparently had a sickle cell disease (SCD), and he wanted to discuss its impact on their soon to be married life. He had brought his fiancée along. Though there have been several advances in its management, there is a lack of uniformity in the health care services in our country. The morbidity associated with this disease has invariably left a deep sense of sorrow in my heart. How did I wish we could completely prevent it from happening, rather than trying to keep pace to manage its complications? And here is a young man with this disease, who has come for pre-marriage counselling. My curiosity gave in.

In walked a healthy-looking 25-year-old man, bringing along with him his anxious-looking future bride. The man looked calm and composed, and in fact, I was the more anxious person in the room. Patients with SCD at this age are bogged down by the recurrent painful crisis and suffer through extensive physical and mental trauma, more so if not appropriately managed. The genetic defects in SCD lead to the formation of abnormal haemoglobin, called haemoglobin S (HbS). Inheritance of two abnormal genes, one from each parent, leads to SCD and inheritance of only one affected gene from either of the parents leads to a sickle cell trait. Children with a trait have their own set of complications, but much less than a patient with classical SCD. This abnormal HbS develops the shape of a sickle due to its genetic defect and carries poor oxygen-carrying capacity. These sickle cells lose their normal flexibility to traverse through capillaries, and in the process tend to clog the traversing vessels. This often leads to impaired oxygen supply to the organs they feed, be it the kidneys, lungs, brain, heart, limbs, etc., eventually leading to a failure of that organ.

As we began our discussion, the couple introduced themselves and opened up about their queries. They seemed well informed. The man had had at least 2-3 painful crises every year, requiring admissions. It was amazing how he recollected with ease those moments of intense pain, requiring heavy doses of morphine for days together. He also described his experiences of having gone through a procedure called as exchange transfusion, that is done for removing the abnormal red blood cells and replacement with normal donors healthy blood. The good thing was he had been under close follow up with his haematologist, undergoing regular screening checks and extremely regular with his pills, especially his hydroxyurea. Hydroxyurea in SCD helps in improved oxygen delivery by increasing the haemoglobin F (Hb F). He said he had had only six units of blood transfusions till date. This was a good sign, and he understood that well. Often patients with SCD have had much more transfusions, and this makes them prone to the excessive iron overload and probable viral infections that accompany transfusions.

His present complaint was also something peculiar to SCD. He has had three episodes of priapism, a phenomenon of persistent painful erection due to clogged veins of the penis. Though it had settled now, this was the main discussion the family wanted to have with me. In addition, they wanted to understand the role of an allogeneic transplant if that was a possibility and its complications. I addressed their issues focussing first on his issue of priapism. I did explain to them that in the long term, such repeated occurrences could lead to functional impotence. The couple did receive it well, understanding the consequences well. They also acknowledged the fact that patients of SCD are more susceptible to bacterial infections, due to the phenomenon of auto splenectomy – a condition wherein the spleen is damaged due to repeated vessel clogging. I also explained to them there is a possibility of their child being born with a sickle cell trait. Coming to the possibility of undergoing an allogeneic transplant, I did tell them that he does fit as a potential candidate considering his good overall general condition and his continued repeated crisis episodes, in spite of his higher age. A bone marrow transplant has the potential to correct this genetic defect, I explained to him. Most of the available literature is in younger age groups, but he has maintained a good disciplined and healthy lifestyle, thus making him a good candidate. I also explained to them the need for an HLA identical donor, be it an immediate sibling or an unrelated donor through independent stem cell registries like NMDP, DKMS and DATRI. I also explained to him the fact that we have had the opportunity to transplant several SCD patients and with reasonably good success rates. We ended up chatting for an hour, and I was amazed at the couple’s warmth and love for each other. They left with their queries answered. It was a long day for me. Being a part of a team of haematologists and stem cell transplant physicians, this branch offers us the opportunity to meet people who live in extreme circumstances and yet enjoy life as it is offered to them. I retired for the day with a feeling of contentment. How I wish every couple before marriage undergoes screening tests to identify such mutations in time and minimise the incidences of sickle cell disease altogether. Appropriate prenatal screening in the first few months of pregnancy can also help identify a potential sickle (HbS) baby, necessitating timely abortion of the foetus under medical supervision.

It was only a week later that I received a wonderful wedding invitation card from the same couple.