Types of Sickle Cell Disease

TYPES OF SICKLE CELL DISEASE

Types of sickle cell disease. Your red blood cells’ hemoglobin is impacted by sickle cell disease. Red blood cells with a sickle shape are the result of aberrant hemoglobin clumping together due to a genetic abnormality. Anemia, discomfort, infections, and other consequences can result from these blood flow obstructions.

TYPES OF SICKLE CELL DISEASE

Although, those of African or Caribbean ancestry are more likely to have sickle cell disease. The abnormally shaped red blood cells produced by sickle cell disease patients can be problematic because they can obstruct blood vessels and do not last as long as healthy blood cells.

Types

A severe variant of SCD, HbSS affects 65% of patients. Individuals with this kind received one hemoglobin S-encoding gene from each father. You have chronic anemia because most or all of your hemoglobin is abnormal.

HbSC, or hemoglobin SC
About 25% of patients with the illness have mild to moderate HbSC. The hemoglobin S gene was inherited from one parent by those who had this type. Their other parent gave them hemoglobin C, another aberrant form.

Hemoglobin beta thalassemia (HbS)
The hemoglobin S gene was inherited from one parent by those who had this type. Their other parent passed on an aberrant form known as beta thalassemia to them.

Causes

Sickle cell disease is brought on by a genetic mutation in the HBB gene. A portion of hemoglobin is produced by the HBB gene. Two mutant HBB genes, one from each parent, are responsible for aberrant hemoglobin in people with sickle cell disease. The inheritance pattern for SCD is autosomal recessive. This indicates that although each parent of a kid with sickle cell disease contains one copy of the defective gene, they usually do not exhibit any symptoms of the illness.

Signs

When a child is between five and six months old, symptoms of sickle cell disease start to appear. SCD symptoms and indicators differ from person to person. While some people experience mild symptoms, others experience more severe complications. Symptoms of sickle cell disease include:
frequent flare-ups of pain.
Anemia, which results in weakness, paleness, and exhaustion.
Jaundice is characterized by yellowing of the skin and whites of the eyes.
painful edema in their feet and hands.

Treatment

Sickle cell disease can be cured by a bone marrow transplant, also known as a stem cell transplant. A healthy, genetically compatible donor, like a sibling, is needed for the transplant. You obtain healthy marrow from the donor during this surgery. Only roughly 18% of SCD patients, however, have a compatible donor. A transplant is not without its risks and problems, though. You and your healthcare practitioner will talk about these matters.

Prevention

Since sickle cell disease is a genetic illness, it cannot be prevented. Consider discussing genetic testing or genetic counseling with your healthcare professional if you are pregnant.

Summary

The illness known as sickle cell disease is permanent. Although a remedy exists, stem cell transplants are not always accessible and have a number of dangers. On the other hand, early identification and treatment might lessen your symptoms and the likelihood of problems. You are capable of living a full and active life with continued care.