SICKLE CELL DISEASE – WHAT YOU NEED TO KNOW

Sickle cell disease (SCD) are a group of inherited disorders which affect the red blood cells. It is a genetic condition, which means it is passed on from parents to offspring.

Sickle cell disorders causes normally round and flexible blood cells to become stiff and sickle shaped, stopping the blood cells, and the oxygen they carry, from being able to move freely around the body and causing pain.
This can cause episodes of severe pain. These painful episodes are referred to as sickle cell crisis.

Sickle cell disease

People with sickle cell are also at risk of complications stroke, acute chest syndrome, blindness, bone damage, priapism (a persistent, painful erection of the penis) and other complications.

Treatment of sickle cell mostly focuses on preventing and treating complications. Adequate pre-marital counseling and medical evaluation is necessary for its prevention.

Types of Sickle Cell Disease

Following are the most common types of SCD:

HbSS – This is the most severe form. Those who have this form of sickle cell disease inherit two sickle cell genes (“S”), one from each parent. It is called sickle cell anemia

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HVAC – People who have this form of SCD inherit a sickle cell gene (“S”) from one parent and from the other parent a gene for an abnormal hemoglobin called “C”. Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body. This is usually a milder form of SCD.

HbS beta thalassemia – Those who have this form of SCD inherit one sickle cell gene (“S”) from one parent and one gene for beta thalassemia, another type of anemia, from the other parent.

There are two types of beta thalassemia: “0” and “+”. Those with HbS beta 0-thalassemia usually have a severe form of SCD. People with HbS beta +-thalassemia tend to have a milder form of SCD.

Other type of sickle cell disease (SCD)

HbSD, HbSE, and HbSO – who have these forms of SCD inherit one sickle cell gene (“S”) and one gene from an abnormal type of hemoglobin (“D”, “E”, or “O”). Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body. The severity of these rarer types of SCD varies.

Sickle Cell Trait (SCT)

HbAS – People who have SCT 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 SCT usually do not have any of the signs of the disease and live a normal life, but they can pass the trait on to their children.

Complications of sickle cell anaemia

– Pain
– Anemia
– Stroke
– Acute chest syndrome
– Pulmonary hypertension.
– Infection
– Organ damage
– Blindness
– Leg ulcers
– Gallstones.
– Priapism

Diagnosis of sickle cell disease

Screening for sickle cell anemia is done with a simple blood test that detects the presence of the abnormal hemoglobin protein

Patients diagnosed with sickle cell anemia require frequent laboratory tests including blood and urine tests, in order to monitor them for complications like kidney problems or infections. Patients may also receive a transcranial Doppler ultrasound screening (TCD) — a  painless procedure that uses sound waves to examine blood flow in the brain. It lets doctors assess the risk of stroke, and start treatments to reduce that risk if necessary.

 

Genetic counseling
Patients with sickle cell trait or parents of newborn babies diagnosed with sickle cell anemia or sickle cell trait are often referred to genetic counseling. This helps prospective parents determine the probability of future children inheriting the disease, and helps them make fully informed reproductive decision
Treatment is varied depending on the complications experienced:
pain medication to prevent or treat pain
Hydrea to prevent complications
folic acid to help to make new red blood cells
antibiotics to treat infections
vaccinations to prevent diseases that would be especially risky for those with sickle cell disease
blood transfusions to treat complications and help prevent stroke
bone marrow transplant for some patients with severe symptoms

Can it be cured ?
The only cure for SCD is bone marrow or stem cell transplant.

Sources

Diagnosis of Sickle Cell Disease


https://www.cdc.gov/ncbddd/sicklecell/facts.html
https://www.lifespan.org/centers-services/sickle-cell-multidisciplinary-clinic/complications-and-treatment-sickle-cell

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