Sickle cell disease is a major genetic disorder in tropical Africa

The disorder follows a more severe clinical course among patients in Africa than those outside Africa.

In sub-Saharan Africa, about 300,000 infants are born with major haemoglobin disorders and about 2% of all children have Sickle Cell Disease.

The frequency of the trait is between 15 and 30% in West Africa and 2% in Ghana.

It has also been reported that the Komfo Anokye Teaching Hospital in Kumasi, Ghana, currently manages 6000 newborn babies diagnosed with sickle cell disease.

This represents the largest number of newborn babies with the blood disorder being taken care of under one facility.

This implies that sickle cell disease is of huge public health concern.

WHAT IS SICKLE CELL DISEASE?


Sickle cell disease can be defined as a group of inherited red blood cell disorders.Healthy red blood cells are round and they move through small blood vessels carrying oxygen to all parts of the body.

In sickle cell disease, the red blood cells become hard and sticky and looks like a C-shaped farm tool called a sickle. Sickle cells die early which causes a constant shortage of red blood cells.

Normal red blood cells can live between 90 to 120 days in the blood circulatory system but sickled cells die after only about 10 to 20days.

Because they are usually destroyed at a faster rate, the blood is always short of circulating healthy red blood cells, a condition called anaemia.

TYPES OF SICKLE CELL DISEASE

There are several types of SCD which include;

HbSS

HbSC

Other rare types may include;

HbSD

HbSO

SICKLE CELL TRAIT

Hb AS

People who have Sickle cell trait inherit one sickle cell gene (“S”) from one parent and one normal gene (“A”) from the other parent. This is called sickle cell trait (SCT).

People with the trait usually do not have any of the signs of the disease because the normal Hb A works to produce normal red blood cell to make up up for the abnormal Hb S.

Sickle cell diseases can get stuck in small red blood vessels and block the flow of blood and oxygen to organs in the body. These blockages cause repeated episodes of severe pain, organ damage, serious infections or even stroke.

CAUSES OF SICKLE CELL DISEASE

Sickle cell disease is inherited the same way that people get the colour of their eyes, skin and hair. A person will be born with SCD only if two genes for defective hemoglobin are inherited: one from the mother and the other from the father.

SICKLE CELL CRISES

Sickle cell crises are episodes of pain that occur with varying frequency and severity in different patients and are usually followed by periods of remission.

Crises can occur anywhere in the body but most commonly occurs in the lower back, leg, abdomen and chest, usually in two or more locations. The risk for a sickle cell crisis is increased by any activity that boosts the body's requirement for oxygen.

Episodes typically begin at night and last 3 - 14 days, accelerating to a peak over several days and then declining. The pain is typically described as sharp, intense, and throbbing. Shortness of breath is common.

COMMON CLINICAL MANIFESTATIONS

Hand – foot syndrome

Chronic pain

Anaemia

Delayed puberty

Prolonged anaemia resulting in jaundice

Priapism


COMPLICATIONS OF SICKLE CELL DISEASE

Infection

Hand-foot syndrome

Eye problems

Acute chest syndrome

Stroke

Leg ulcer

Aplastic crisis


TREATMENT

The goals of treating sickle cell disease are:

To relieve pain

To prevent infections, eye damage and strokes.

There is no single best treatment for all people with sickle cell disease.

Treatment options are different for each person depending on the symptoms.

Treatment may include:

receiving blood transfusion

Maintaining a high fluid intake – about 8-10 glasses of water each day.

Receiving intravenous (IV) therapy

Pain medications to help with pain

For severe sickle cell disease, a medicine called hydroxyurea might be recommended.

Research suggests that hydroxyurea can reduce the number of painful episodes and the recurrence of acute chest syndrome

IS THERE A CURE FOR SICKLE CELL DISEASE?

The only cure for sickle cell disease is a bone marrow or stem cell transplant.

This is a procedure that takes healthy stem cells from a donor and puts them into someone whose bone marrow is not working properly.

These healthy stem cells cause the bone marrow to make new healthy cells
Bone marrow or stem cell transplants are very risky, and can have very serious side effects.

For the transplants to work, the bone marrow must be a close match

HOW DO PEOPLE MANAGE TO LIVE WITH SICKLE CELL

Each patient usually has an individualized care plan that aims to:

Prevent sickle cell crisis

Provide pain relief during a sickle cell crisis

Reduce risk of complications, such as infections and stroke

Manage patient-specific symptoms (e.g. anaemia)

SICKLE CELL CRISES PREVENTION

There are several lifestyle changes that are thought to help reduce the risk of crises. These include:

Staying hydrated

Regular exercise

Nutritious diet

Avoiding smoking

Moderating alcohol intake

Treat any infection as soon as it occurs

Keep warm in the cold weather

Avoid stress

Try to avoid places or situations that expose you to high altitudes (for example, flying, mountain climbing, or cities with a high altitude).

Try to avoid places or situations that expose you to low oxygen levels.

COPING WITH SICKLE CELL

Sickle cell patients and their families may need help in handling the economic and psychological stresses of coping with this serious chronic disease.

Sickle cell centers and clinics can provide information and counseling on handling these problems.

Parents should try to learn as much about the disease as possible so that they can recognize early signs of complications and seek early treatment

HOW DO WE PREVENT SICKLE CELL??

People who are planning to become parents should know whether they are carriers of the sickle cell gene.

Couples with the sickle cell gene may have to seek genetic counseling. The time is now to help break the sickle cell disease chain and the cycle of pains and build a healthy society.