Sickle cell disease By Mayu Jovany Characteristics of

Sickle cell disease By Mayu & Jovany

Characteristics of the disorder � Sickle-cell disease (SCD) or sickle-cell anemia (SCA) is an autosomal recessive genetic blood disorder with abnormal, rigid, sickle shape red blood cells. � Blood cells have a crescent shape to them because there is a strange type of hemoglobin in them. Hemoglobin is a protein inside the blood. The sickling occurs because of a mutation in the hemoglobin gene.

How to detect the disorder � You can take a blood test, If the sample reveals a range of 6 -8 g/d. L, this indicates that the patient may have SCD. A blood film also may show features of hyposplenism, or absence of normal function.

Babies Born with SCD � No specific number is defined. The number of babies born with SCD depend on the genetic pairing between parents.

Occurrences and population affected � Anyone can get SCD. Usually SCD are passed down from parents to children, so those who are concerned about inheriting SCD genes will go through counseling. � The male to female ratio is 1: 1. (50% male, 50% female) � SCD occurs more commonly in people (or their descendants) from parts of tropical and sub-tropical sub Saharan regions where malaria is or was common. How malaria and abnormality in red blood cells relate is explained by the fitness benefit in carrying only a single sickle-cell gene. Those with only one of the two alleles of the SCD, while not totally resistant are more tolerant to the infection and thus show less severe symptoms when infected.

Mortality Rate � The African medical literature reported that infants have the highest morality rate

Treatment � Children born with SCD will undergo close observation by the pediatrician and will require management by a haematologist to assure they remain healthy. These patients will take a 1 mg dose of folic acid daily for life. From birth to five years of age they will also have to take penicillin daily due to the immature immune system that makes them more prone to early childhood illnesses. For adults, bone marrow transplants are often recommended because red blood cells are made in bone marrow.

Interesting facts � Unlike normal red blood cells, which can live for 120 days, sickle-shaped cells live only 10 to 20 days. In the United States, the disease most commonly affects African-Americans. � About 1 out of every 500 African-American babies born in the United States has sickle cell anemia.

What SCD Looks Like

References � http: //www. ncbi. nlm. nih. gov/pubmedhealth/ PMH 0001554/ � http: //learn. genetics. utah. edu/content/disor ders/whataregd/sicklecell/