What Is Sickle Cell Disease? A Simple Guide for Nigerians

Knowledge of the condition can help the patient and family recognize early signs and symptoms and seek and receive proper medical treatment as well as make informed choices.

What Is Sickle Cell Disease? A Simple Guide for Nigerians

A lot of Nigerians have heard about sickle cell disease but have not been able to get the answers to questions like: How does sickle cell develop, why does it cause pain and can sickle cell disease be cured? Sickle cell disease is an inherited blood condition in which red blood cells misshapen and do not work properly. In particular, it is prevalent in Nigeria and other sub-Saharan countries. Knowledge of the condition can help the patient and family recognize early signs and symptoms and seek and receive proper medical treatment as well as make informed choices. This guide aims to describe the definition of sickle cell disease, its impact on the body, the treatment of sickle cell disease and what is the cure for sickle cell disease in patients who are looking for advanced treatment in India.

What is Sickle Cell Disease?

Sickle Cell Disease (SCD) refers to a family of inherited blood disorders that occur when the protein in the blood cells carrying oxygen, (haemoglobin) is abnormal. Normally red blood cells are round, flexible and can easily pass through small blood vessels. The sickle cell in sickle cell disease may become hard, sticky and sickle-shaped like a farming sickle. The misshapen cells may obstruct blood flow and deprive other body parts of oxygen. They also break down more quickly than normal red blood cells which lead to anaemia. If blockages and decreased oxygen continue, they can cause serious pain, infection, organ damage and more. Sickle cell disease is NOT infectious. It is passed on to a person at birth as a result of the parents' genes.

What is the cause of Sickle Cell Disease?

In sickle cell disease, mutations in the HBB gene (which contains instructions for making haemoglobin) cause the disease. One gene for haemoglobin is passed on from each parent.

The most frequently seen genetic patterns are:

  • HbSS: Child receives two sickle haemoglobin genes, one from each parent. This is usually linked with sickle cell anaemia and may be very serious.
  • HbSC: Both sickle haemoglobin and haemoglobin C genes are passed down to the child.
  • HbS beta-thalassaemia: Child receives a sickle haemoglobin gene and a beta-thalassaemia gene.

Nigeria is one of the countries with the highest prevalence of sickle cell disease in the world. It is also prevalent in West Africa, thus raising awareness and early diagnosis and treatment is crucial to public health.

What is Sickle Cell Trait?

  • Sickle cell trait is the inheritance of one gene for sickle haemoglobin and one normal haemoglobin, often written as HbAS.
  • People with sickle cell trait usually do not have sickle cell disease symptoms. But they can pass on the sickle gene to their offspring.
  • That is why genetic testing prior to marriage and genetic counselling may be beneficial for prospective parents.

What are the signs or symptoms of sickle cell disease?

Symptoms may range from those of the different types of sickle cell disease and health status. Common symptoms include:

Severe Pain Episodes

  • Sickle-shaped cells plug up blood vessels causing pain crises. The pain can be in the back, chest, abdomen, joints, hands or legs.
  • Episodes may last for hours to days and require hospitalization.

Anaemia and Fatigue

Sickle cells live for a shorter time than normal red blood cells. They break down quickly and can lead to anaemia which may lead to:

  • Tiredness
  • Weakness
  • Pale skin
  • Shortness of breath
  • Dizziness

Frequent Infections

  • People with sickle cell disease may have a weakened spleen which can impair the body's ability to resist infection. This means that patients, especially children may be at risk of getting severe infections.

Swelling of Hands and Feet

  • Some young children with sickle cell disease may develop swelling and pain in the hands and feet (dactylitis).

Delayed Growth in Children

  • In children, the repeated illness and chronic anaemia can have an impact on physical development, weight gain and growth.

Jaundice

  • When red blood cells break open, this can raise bilirubin causing a yellowing of the eyes or skin.

What triggers Sickle Cell Crises?

Some things can make a painful crisis more likely. Common triggers include:

  • Dehydration
  • Infections
  • Extreme temperatures
  • Physical exhaustion
  • Stress
  • High altitudes
  • Lack of oxygen
  • Delayed medical treatment

Complications of sickle cell disease can be minimised by adequate hydration and adherence to a personalised treatment plan for a Nigerian patient. But triggers do differ among individuals. It is important that patients talk to a haematologist about each person's risks.

Diagnosis of Sickle Cell Disease

Blood tests are typically used for diagnosis, recognising abnormal haemoglobin.

These are some of the common tests used for diagnosis:

  • Haemoglobin electrophoresis
  • High performance liquid chromatography (HPLC)
  • Genetic testing as required.
  • Complete blood count (CBC)

Newborn screening can help determine if sickle cell disease is present and help provide treatment and prevention before more serious complications occur. Particularly important for children: If diagnosed early, the health outcomes from preventive treatment, vaccinations and regular monitoring can be substantially enhanced.

What is the cure for Sickle Cell Disease?

A common question asked by patients is: What is the cure for Sickle Cell?

It will depend on the treatment being applied. Sickle cell disease is a genetic disorder and conventional medicines typically treat the symptoms and not the genetic disease itself. For some more complex treatments, however, there may be a chance of a cure for a few patients.

Bone Marrow Transplant

Bone marrow transplant or haematopoietic stem cell transplant (HSCT) is one of the known potentially curative treatments for severe sickle cell disease. The procedure replaces the patient's abnormal blood-forming stem cells with healthy stem cells from a suitable donor. These healthy cells can make normal red blood cells.

Bone marrow transplant might be considered for patients who have severe problems such as:

  • Frequent pain crises
  • A stroke or high risk of stroke.
  • Severe organ damage
  • Recurrent attack of acute chest syndrome (ACS)
  • Poor response to conventional treatment

There are many factors responsible for the success of the transplantation including the experience of the centre, the overall health and age of the donor and donor compatibility.

Gene Therapy

One of the most advanced therapies is gene therapy which would attempt to cure the genetic root of SCD. If the therapy is to be used, the patient's own stem cells might be harvested, modified and then inserted back into the body following a conditioning treatment. Gene therapy has opened new avenues for the patient that might not have a suitable bone marrow donor. But there are differences in what's required to be eligible, available, cost-effective and what follow-up is needed. The patients are advised to visit the experienced haematologists for advanced curative treatment if applicable for their condition.

Hydroxyurea and Disease Management

The drug hydroxyurea is an important medicine for slowing the symptoms of sickle cell disease. Can lead to an increase in fetal haemoglobin and decreases the number of pain crises in many patients.

Other supportive measures might include:

  • Pain-relief medications
  • Blood transfusions
  • Folic acid supplementation, as advised.
  • Antibiotics for infections
  • Vaccinations
  • Regular organ screening

These treatments are not a cure for sickle cell disease but they can improve the health and quality of life for people with it.

Is there any possibility of Nigerians getting sickle cell disease treatment in India?

Yes. Sickle cell disease treatment is available for international patients in specialised haematology/bone marrow transplant centres in India.

Patients from Nigeria who come to India may be evaluated and treated for sickle cell disease in India such as:

  • Comprehensive haematology consultations
  • The evaluation of bone marrow transplantation.
  • Stem cell transplantation
  • Genetic and diagnostic testing procedures.
  • Blood transfusion support
  • Paediatric haematology care
  • Long-term follow-up planning

In India there are multidisciplinary teams comprising haematologists, transplant physicians, paediatric specialists and critical care specialists in hospitals. Patients should inform the hospital or medical facilitation service where they are to be treated before trip about their medical documents, genotype results, past transfusion history, past treatments and complications.

How GetWellGo aids Nigerian sickle cell patients?

It is difficult to travel to another country for medical care particularly for family members with a chronic illness. GetWellGo facilitates Nigerian patient access to hospitals and specialists in India with experience in their field.

Services may include:

  • Review of medical records and doctor recommendations.
  • Treatment estimates from hospitals in India.
  • The appointment is pre-planned online prior to travel.
  • The care and support of bone marrow transplant and haematology treatment co-ordination.
  • Medical visa assistance
  • Enhancing airport transfers and accommodation support.
  • Dedicated patient coordinators
  • Provide interpreter and language assistance as necessary.
  • After-treatment support for the patient.

GetWellGo enables patients to become more knowledgeable about their available treatment options and to make informed choices about their care.

Conclusion

Sickle cell disease is an inherited condition of the red blood cells which may lead to pain, anaemia, infections and organ complications. With the knowledge of what sickle cell disease is, the first step towards early diagnosis, proper management and better quality of life will be taken. Though current therapies can treat symptoms and prevent complications, more sophisticated therapies like bone marrow transplant and gene therapy may provide potential cures for certain patients. GetWellGo has a unique solution that facilitates Nigerians to find the right hospitals, haematologists and transplant centres in India for specialised sickle cell disease treatment and assist them throughout their medical journey.

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