LL3: Genetic & Environment
About Sickle Cell-Anemia
Sickle Cell-Anemia is one of the Recessive diseases here in America in which 1 in 500 babies being born to parents of African descent. However, there is treatment for it. Putting the child or adult on a special diet will result in an average intelligence and normal lifespan.
This disease (Sickle Cell-Anemia) is a malfunctional group affecting both the hemoglobin and the molecule in the red blood cells, which is supposed to send oxygen cells throughout the body. Folks who have this kind of disorder within their bodies also have what is called hemoglobin S. Hemoglobin S is one molecule that creates red cells into either a sickle or the shape of a crescent.
When people come to find out he or she has the disease, usually it will start off at early childhood. You may ask a question by wondering "How will I know the signs and symptoms of this disease?" I'm glad you asked. Most people become blind to the symptoms thinking it's one thing when it turns out to be the worst. Here's what you have to watch out for:
*red blood cells sickling of which break down too prematurely, resulting in anemia.
*anemia causing short of breaths, fatigue and growth delays plus the child's development
*jaundice (quick breakdown of red blood cells causing the yellowing of both eyes and skin)
*painful episodes occurring when sickled red blood cells causing them to be both stiff and inflexible, let alone being stuck in small blood vessels
*episodes leading up to depriving tissues and organs of oxygen-rich blood plus damage to the organs, but mostly within the lungs, kidneys, spleen and the brain most of all.
*pulmonary hypertension (high blood pressure in the blood vessels providing for the lungs. This also results in heart failure).
How often does this occur?
-This disease of sickle cell-anemia, first of all, affects millions all over the world.
-People whose ancestors come from the following: Africa, Greece, Turkey & Italy (Mediterranean countries); Arabian Peninsula, India and also the Spanish-speaking sections of South and Central America plus parts of the Carribean.
-Most common inherited blood disorder in the U.S. which about 70-80,000 American-born citizens are affected as a result of this disease.
-This disease has a number estimating to about 1 in 500 African-Americans as well as 1 in 1,000 to 1,400 Mexican-Americans
Various kinds of names fro this disease are:
*HbS disease
*Hemoglobin S disease
*SCD
*Sickle cell disorders
*Sickling disorder due to hemoglobin S
Pattern of Inheritance
-A combination of the gene's copies have mutations in each cell.
-The individual's parents with an autosomal recessive condition hold one copy of the mutated gene each.
Are there changes in the genetic when dealing with the sickle cell disease? The answers can vary.
*The HBB gene in mutation causes sickle cell-anemia.
*Hemoglobin has four protein subunits:
-2 alpha-globin
-2 beta-globin
There are different versions of beta-globin ending up with various mutations in the HBB gene.
-One produces an abnormal version of beta-globin (HbS)
-Others result in additional abnormal versions of beta-globin such as hemoglobin C (HbC) and also hemoglobin E (HbE)
Sources: Infants, Children and Adolescents: Eighth Edition (2007) Laura E. Berk & Adena B. Meyers
Genetics Home Reference https://ghr.nlm.nih.gov/condition/sickle-cell-disease