Sickle cell disease is part of a group of inherited disorders (notably sickle cell anemia) that affect the structure of red blood cells, the body’s oxygen carriers.
Red blood cells, generally round and supple, navigate effortlessly through our blood vessels.
However, in sickle cell anemia, some of these cells assume the shape of sickles or crescent moons, turning rigid and sticky. This transformation can hamper or block blood flow, leading to numerous health issues.
While there’s currently no universal cure, treatments can alleviate pain and help prevent disease-associated complications, improving the quality of life for those affected.
The Inheritance Pattern of Sickle Cell Disease
Sickle cell disease is an inherited condition that springs from the inheritance of two abnormal hemoglobin genes, referred to as hemoglobin S, one from each parent.
When a person inherits the hemoglobin S gene from only one parent and a normal hemoglobin gene (hemoglobin A) from the other, they have what’s known as sickle cell trait. These individuals are generally healthy but are carriers of the disease.
Let’s break this down:
If both parents have one normal hemoglobin A gene and one hemoglobin S gene, each of their offspring has:
- a 25% chance of inheriting two normal hemoglobin A genes (not having sickle cell trait or disease),
- a 50% chance of inheriting one normal hemoglobin A gene and one hemoglobin S gene (having sickle cell trait), and
- a 25% chance of inheriting two hemoglobin S genes (developing sickle cell disease).
These odds remain the same for each child the couple conceives, irrespective of the genetic outcome of their previous children.
Signs and Symptoms of Sickle Cell Disease
The symptoms of sickle cell disease usually begin to surface around the age of six months. These symptoms, varying in intensity and frequency, can change over time. They can include:
- Anemia
- Painful Episodes
- Swelling of Hands and Feet
- Frequent Infections
- Delayed Growth or Puberty
- Vision Problems
Diagnosis and Treatment of Sickle Cell Disease
Diagnosing sickle cell disease involves a detailed medical history, a thorough physical examination, and specialized blood tests.
Many states in the U.S. screen newborns for sickle cell disease to begin treatment at the earliest possible time. A common test called hemoglobin electrophoresis can determine whether a person is a carrier or has sickle cell disease.
Treating sickle cell disease primarily aims to prevent organ damage, infections, and manage symptoms. Here are some common treatment strategies:
- Pain Medication: Medicines are provided to manage pain during sickle cell crises.
- Hydration: Drinking ample water (8-10 glasses per day) helps prevent and treat pain crises. In some cases, intravenous fluids might be required.
- Blood Transfusions: This helps treat anemia, prevent stroke, and dilutes sickled hemoglobin with normal hemoglobin to manage emergencies.
- Vaccinations and Antibiotics: These are used to prevent infections.
- Folic Acid: This nutrient helps prevent severe anemia.
- Hydroxyurea: This medicine reduces the frequency of pain crises and acute chest syndrome and may decrease the need for blood transfusions.
- Regular Eye Exams: These are necessary to screen for retinopathy.
- Bone Marrow Transplant: In some cases, a bone marrow transplant can cure sickle cell disease. This treatment option requires careful evaluation based on disease severity and the availability of a suitable bone marrow donor.
The Impact of Sickle Cell Disease in Africa
Sickle cell disease poses a significant health challenge in Africa, with over 75% of the 300,000 babies born with the disease worldwide each year being in sub-Saharan Africa.
Unfortunately, the disease often remains neglected, and without intervention, many affected children in this region do not reach their fifth birthday.
However, there are glimmers of hope as awareness increases and early interventions such as newborn screening and comprehensive care programs are introduced.
As mortality rates decrease, efforts focus on enhancing the quality of life and improving life expectancy for those with the disease.
Treatment options like Hydroxyurea and hematopoietic stem-cell transplantation have shown effectiveness in high-income countries but are generally inaccessible or too expensive for most African populations.
Numerous international collaborations are emerging to address these challenges, creating a support network that aims to positively transform sickle cell disease management in sub-Saharan Africa. For more information, visit Africa Sickle Cell Disease Organization.
Written by: Emmanuel J. Osemota
References:
https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
https://www.nhlbi.nih.gov/health/sickle-cell-disease/causes
https://www.cdc.gov/ncbddd/sicklecell/index.html
https://www.hopkinsmedicine.org/health/conditions-and-diseases/sickle-cell-disease
https://www.cdc.gov/ncbddd/sicklecell/features/what-is-scd.html
https://medlineplus.gov/genetics/condition/sickle-cell-disease/
https://www.afro.who.int/health-topics/sickle-cell-disease
https://www.thelancet.com/journals/lanhae/article/PIIS2352-3026(21)00191-5/fulltext
