Sickle Cell Anaemia By Yvonne sun

Frequency of the disorder

According to statistics, it is "estimated that 1/4 of a million children are born with sickle cell disease worldwide every year."

Is the disease more common in particular community?

This disease is much more common in the African America region/community as well as Africa, Middle East, Mediterranean and India. This is mainly because sickle cell and malaria are both gene variant related and they are commonly found in those who live in regions such as Africa, Southern Europe, Southern Asia and Middle East.

"Where there is malaria, there is sickle cell." Although there are sayings that only black people are victims of sickle cell, it is not true.

Signs and symptoms of the disorder

Signs: Hands and feet swelling, fever, pale skin or nail beds, vision problems, delayedy growth.
Symptoms: Episodes of pain, infections, leg ulcers, blindness, organ damage, acute chest syndrome.

Genetics of the disorder- How is it inherited?, dominant or recessive? Chromosomal disorder or is it due to a random mutation?

Sickle cell anaemia is inherited by genes and is caused due to the mutation with in the gene. The disorder is recessive as the disease is passes on from parents to children, this happens when the child takes the recessive gene of the disorder from one parent and takes another gene from the other.
The gene in that is inherited is called a haemogoblin, and everyone has two copies of this gene which is contained with in every cell.
In other words, if both parents have the disorder then it is certain that their child will inherit the sickle cell anaemia (HbSS). But if one parent carries the sickle cell TRAIT (HbAS) and the other parent has the sickle cell anaemia, then there is a 50/50% chance that their child will inherit the disorder. If both parents are unaffected by this disorder, then their child will 100% not have sickle cell anaemia.

Is the location of the gene known?

Sickle cell anaemia affects the red blood cells that carry oxygen around the body. A normal haemogoblin cell is soft and passes through the body easily, but the cells that are affected becomes rigid and stiff. Because of its rigidness, the cell cannot pass through the passages that leads to the rest of the body, resulting in a period of severe pain around the area (pain crisis). The location of the sickle cell gene is found in chromosome 11.

What type of tests can be done to identify the disorder?

Tests can be done on infants at a young age, even before birth, if the baby is not born, samples can be taken from the fluid that surrounds the baby within the mothers womb, which is called an amniotic fluid. However, to find out if an infant or an adult has sickle cell anaemia, blood tests needs to be taken.
If blood samples are taken from adults, it is usually drawn from the vein inside the arm. If blood samples are taken from an infant, it is drawn from the finger or the heel. Samples are sent to a laboratory to be screened for haemogoblins. Negative results mean that there are no signs of sickle cell genes. And positive results mean that there is presence of sickle cell anaemia.

Prognosis- Likely outcome for people with this disorder, how long will they live? What will the quality of their life be like?

The likely outcome for people with this disorder is that they will often suffer from periods of pain due to the sickle cell blocking the path in which the red blood cells travels through. By blocking the path, it damages the tissue surrounding the area that is blocked.

Unfortunately there is no cure for this disorder, but regular doses of medication (penicillin) are given to infants/ young children in order to prevent serious infections/problems. Blood transfusion can also be done regularly to prevent/avoid chances of organ damage, strokes and it can also relieve symptoms that occur due to red blood cell loss. However, due to the sudden period of pains around the body, it can harm the victim, leaving him/her with broken joints and more.

Those who have sickle cell anaemia can take care of themselves by: Drinking plenty of water, avoid temperature extremes, exercise enough but not too much and use medications.

This is a video which shows the lives of those who live with sickle cell anaemia and how they manage it.

Bibliography:

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