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15 sickle cell disease- related terms you must know

Dr. Akin-Onitolo A.

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• Gene – is a segment of an individual’s DNA and is derived from both parents

• Genotype – refers to the DNA makeup of an individual that determines the outward appearance, behaviour and the kind of diseases the individual may be susceptible to
Genetic – refers to the inheritance of similar traits in a family such as the same type of nose, similar manner of speaking or even disease
Inheritance – like wealth and property, our biology is handed down to us by our parents who also got theirs from their parents and so on, and this could include disease
Haemoglobin – also written as Hb, is the part of the red cells in blood that carries oxygen from the lungs to other organs, it is essential for survival. Possible haemoglobin variations that exist include; HbS, HbC, HbA, and Hbbeta+ thalassemia. Of these, only HbA is normal
Sickle – refers to the half moon shape that affected red cells take in situations where the available oxygen is low. This usually leads to blocking of small blood pipes in the organs and then painful crisis
Sickle cell disease – this refers to a blood condition where an individual inherits the abnormal haemoglobin type S. It covers a range of possible combinations with other abnormal Hb types for example, HbSC, HbSbeta+thalassemia
Sickle cell trait – people who have one normal and one abnormal haemoglobin are described as having the Sickle cell trait and are also called carriers. They bear the Hb AS gene.
Sickle cell anaemia– people who have two abnormal haemoglobin genes – HbSS – have sickle cell anaemia. It is a genetic condition affecting the blood making their red cells take the sickle shape as described above. It occurs in two out of every hundred children born in Nigeria, and is thus, very common
Sickle cell crises – these vary from one affected individual to the other in type and severity, they could present as pain in the hands and feet, bones, joints, stomach, chest or any other part of the body. These crises are often times sudden, but they have been associated with poor oxygen intake, dehydration, extreme temperatures (too cold or too hot). Other complications of the disease could be stroke, kidney problems, heart failure, wounds on the legs that take too long to heal, priapism (this is when a boy/man experiences an erection that is painful, unwanted and prolonged which could lead to impotence if not adequately treated.) amongst many more
Thalassemia – is another inherited blood condition that causes anaemia (low blood level)
Susceptible – used to refer to the state of being more likely to have a disease
Risk – the probability/chance of having a disease
Incompatibility – refers to an instance where two people have the sickle cell trait and/or another abnormal Hb gene and plan to marry and/or have children. They are considered incompatible because of the risk of having children with sickle cell disease
Jaundice – is simply yellowing of the eyes. It is noticed in people with sickle cell disease because of the rapid destruction of sickled red cells that produces a substance that colours the eyes yellow. It can also be seen in liver diseases, drug toxicity, amongst others

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Dr. Akin-onitolo A. is a graduate of the University of Lagos whose mission is to achieve the sustainable development goals (SDGs) using health promotion and improved health literacy. She is an MDCN (Medical and Dental Council of Nigeria) certified doctor who had her elective at King's College London. Hugely interested in travel, meeting people and generally being creative, reading and writing fiction are a few hobbies you could find her engaged in during her spare time. Catch up with her on Twitter @Akinonitolo and Instagram @t_onitolo

2 Comments

2 Comments

  1. Akinola

    September 5, 2016 at 7:53 pm

    Pls doc. What about the SC people emanating from the marching of AC and AS genotypes. There has been no clear and more detailed explanation on this rear genotype. Thanks akinola.

  2. Dr. Akin-Onitolo A.

    Dr. Akin-Onitolo A.

    September 6, 2016 at 11:07 pm

    Dear Akinola,
    Thank you for highlighting this. People who inherit the SC genotype are also affected but to a less severe degree. Further information on this genotype would be posted on this site in the coming weeks so please stay tuned.
    Cheers!

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