Sickle

Sickle Cell Disease

Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents. The most common type is known as sickle cell anaemia (SCA). It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. This leads to a rigid, sickle-like shape under certain circumstances. Problems in sickle cell disease typically begin around 5 to 6 months of age.

Symptoms and Complications

A number of health problems may develop, such as attacks of pain ("sickle cell crisis"), anemia, swelling in the hands and feet, bacterial infections, and stroke. Long term pain may develop as people get older. The average life expectancy in the developed world is 40 to 60 years.

Cause

Sickle cell disease occurs when a person inherits two abnormal copies of the haemoglobin gene, one from each parent. This gene occurs in chromosome 11. Several subtypes exist, depending on the exact mutation in each haemoglobin gene. An attack can be set off by temperature changes, stress, dehydration, and high altitude.

Diagnosis

A blood test can be performed to check for the abnormal haemoglobin. Diagnosis is by a blood test, and some countries test all babies at birth for the disease. Testing is recommended in those with a family history of the disease.

Treatment

Treatments might include medications, blood transfusions, and rarely a bone marrow transplant. While a cure is possible via a bone marrow transplant it is not commonly done due to the significant risks and difficulty finding matching donors.

Epidemiology

Sickle cell disease is most common among those of African descent. In 2015, it resulted in about 114,800 deaths. The condition was first described in the medical literature by the American physician James B. Herrick in 1910. In 1949, the genetic transmission was determined by E. A. Beet and J. V. Neel. In 1954, the protective effect against malaria of sickle cell trait was described.

See Also

• Thalassemia
• Hemoglobinopathy
• Malaria

References

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