Senior Consultant, Bone Marrow Transplant & Haemato-Oncology, BLK-Max Super Speciality Hospital, New Delhi
Series overview · 11 articles
Diagnosis and Management of Sickle Cell Disease
November 24, 2024
Sickle cell disease is one of the most common inherited blood disorders in the world, and bone marrow transplant remains its only established cure. This series is based on a Jivo Masterclass session by Dr. Divya Doval, Senior Consultant, Bone Marrow Transplant & Haemato-Oncology, BLK-Max Super Speciality Hospital, New Delhi, whose practice covers transplant for both benign blood disorders, including sickle cell disease, and malignant blood and solid organ conditions.
Why This Series Matters for Sickle Cell Patients and Their Doctors
Sickle cell disease occurs worldwide, but its maximum incidence and prevalence are in sub-Saharan Africa and the Caribbean, with additional pockets in Latin America, the Mediterranean, the Middle East and the Indian subcontinent. It is caused by a single gene point mutation that substitutes valine for glutamic acid at the sixth position of the beta globin chain, producing an abnormal haemoglobin called haemoglobin S. Every complication of the disease, from pain crises to organ damage, traces back to the properties of this one abnormal molecule. Genetic background also shapes how severe the disease is: on DNA polymorphism analysis, four sickle haplotypes are prevalent across Africa depending on geography (the Senegal, Benin, Bantu and Cameroon haplotypes), while the Arab-Indian haplotype found in Indian and Arabian populations tends to produce milder disease because affected patients carry higher fetal haemoglobin levels.
What This Series Covers
This series works through sickle cell disease the way it presents in clinical practice: how the underlying genetics and haemoglobin S polymerisation actually produce disease, how the diagnosis is confirmed from newborn screening through to haemoglobin electrophoresis, and then organ system by organ system through the acute and chronic complications, pain crisis and acute chest syndrome, stroke and neurological risk, splenic, hepatic, renal and ocular involvement, priapism, infection risk and aplastic crisis. It then covers the treatment ladder in the order clinicians actually use it: hydroxyurea and the newer disease-modifying drugs, transfusion therapy and the iron overload it can cause, and finally the two options that can cure the disease outright, bone marrow transplant and gene therapy, including survival data, cost and who actually qualifies.
This article is based on a Jivo Masterclass session conducted by Dr. Divya Doval, Senior Consultant, Bone Marrow Transplant & Haemato-Oncology, BLK-Max Super Speciality Hospital, New Delhi. The article has been summarised with the assistance of an AI tool from the original masterclass recording. Watch the full Masterclass recording
This guide is based on a live Jivo Masterclass: Dr. Divya Doval taught doctors across Africa on November 24, 2024.
FROM THE LIVE Q&A
Moderator
What is the average cost of a stem cell transplant for sickle cell disease?
Dr. Divya Doval
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.
Frequently Asked Questions
What medications should be avoided by people with sickle cell disease? What is the role of hydration in sickle cell disease?▼
The role of hydration is immense. Anyone who is going to have a pain crisis, or is having one, benefits greatly from hydration. To my knowledge, there are no particular medications that specifically need to be avoided.
What are your absolute indications for bone marrow transplant in sickle cell anaemic children?▼
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.
What preventive measures are possible to avoid complications such as avascular necrosis?▼
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.
What is the pathophysiology of stress as a factor or trigger of sickle cell disease symptoms?▼
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.
What is the management of priapism in sickle cell disease patients?▼
The management is first hydration, control of the pain, and all the supportive measures normally used for sickle cell disease, like oxygen, pain management and fluids. If it doesn't settle, we may need blood transfusion, and for refractory cases, a urology review for possible surgical intervention.
In This Series: Diagnosis and Management of Sickle Cell Disease
- 1.Diagnosis and Management of Sickle Cell Disease
- 2.Sickle Cell Disease Explained: Inheritance, Haemoglobin S and Why Cells Sickle
- 3.Diagnosing Sickle Cell Disease: From Newborn Screening to Confirmatory Testing
- 4.Pain Crisis and Acute Chest Syndrome: The Two Most Common Sickle Cell Emergencies
- 5.Stroke Risk in Sickle Cell Disease: Screening and Preventing a Devastating Complication
- 6.How Sickle Cell Disease Damages the Spleen, Liver, Kidneys and Eyes
- 7.Priapism, Infections and Aplastic Crisis in Sickle Cell Disease
- 8.Hydroxyurea and Newer Drug Therapies for Sickle Cell Disease
- 9.Blood Transfusion and Iron Overload Management in Sickle Cell Disease
- 10.Bone Marrow Transplant and Gene Therapy: Curing Sickle Cell Disease
- 11.Sickle Cell Disease and Pregnancy: Managing a High-Risk Combination