Sickle Cell Disease: Everything You Need to Know

While we commonly associate blood with the color red, it may surprise you to learn that not all human beings have red blood. Variations in blood colors, including green, blue, and black, exist. However, in this article, we will focus on a specific aspect: the shape of blood cells, particularly in the context of Sickle Cell Disease.

To facilitate our discussion, we can categorize individuals into three groups. The first group comprises those with blood cells shaped like a full moon, which is the standard and considered normal. The second group consists of individuals with a mix of normal blood cells and a unique type resembling crescents or half CD disks, commonly known as carriers. Lastly, the third group includes those with nearly all their blood cells shaped like half-moons, known as “Sicklers.”

In a healthy individual, red blood cells typically exhibit a CD cassette-like or full moon shape, ideally suited for efficiently transporting oxygen to all parts of the body. This shape is determined by genetic factors inherited from parents. It’s important to note that not all humans possess the standard, normal red blood cells.

How do we get sickle cell?

Sickle Cell Disease is a heritable condition, meaning it can be passed on from parent to child. The genetic representation of sickle cell involves two genes: Gene A, which represents normal blood cell shape, and Gene S, which represents sickle-shaped blood cells. Every human being possesses a pair of these genes, known as their genotype. However, only one of these genes is present in a sperm cell or egg cell.

The three primary genotypes associated with sickle cell are AA (normal), AS (carrier), and SS (sickler). If both parents have the AA genotype, they can each transmit an A gene during fertilization, resulting in a child with the AA genotype (normal). Similarly, if one parent has the AS genotype and the other has the AA genotype, they can transmit either an A or an S gene, resulting in a child with the AS genotype (carrier). Conversely, if a child receives an S gene from both the father and the mother, they will have the sickle cell disorder (SS).

What are symptoms of Sickle Cell Disease?

Sickle Cell Disease manifests with various symptoms that can significantly impact an individual’s health and well-being. Key symptoms associated with this condition includ:

Anaemia

In Sickle Cell Disease, the lifespan of red blood cells is significantly shortened. While normal red blood cells typically survive for about 120 days, sickled red blood cells may perish before reaching even 20 days. This premature destruction of blood cells leads to a condition known as Sickle Cell Anaemia, resulting in a deficiency of healthy blood cells.

Pain

Sickle cells have a propensity to congest and obstruct blood vessels, causing intense pain in different parts of the body. These painful episodes can occur in areas such as the chest, abdomen, bones, and other organs, significantly impacting an individual’s quality of life.

Delayed Puberty

The presence of healthy red blood cells is crucial for the delivery of nutrients and metabolites required for growth and metabolism throughout the body. However, individuals with Sickle Cell Disease experience disruptions in this normal process, leading to slow growth and a delayed onset of puberty.

Vision Problems

The accumulation of sickled blood cells in the eye, particularly around the retina, can interfere with the proper processing of images, resulting in poor eyesight and potential vision problems.

Increased Susceptibility to Infections

The spleen and other vital organs play a crucial role in combating infections. However, individuals with sickle cell may experience impeded functioning of these organs, making them more vulnerable to pathogenic infections. This heightened susceptibility to frequent infections poses additional health challenges.

How long do people with Sickle Cell live?

Ashata Onikoyi- Laguda, the oldest sickle cell patient in Nigeria and sub-Saharan Africa, passed on in February 2020, at age 95. In the US, Ernestine Diamond, who dedicated a life to the awareness of sickle cell disease, died at 94 in April 2022. As of April 2023, Joan Lambright, Born in 1939, was told she wouldn’t survive her teenage years after being diagnosed with Sickle Cell Anemia, is still living with sickle cell. The recent average life expectancy of people with sickle is 54 years. Often, people with the disease do not understand their bodies well till later in life. Advances in science and increased awareness is expected to have a positive impact on the quality of life of people with the disease.

Considerations for Marriage and Sickle Cell Genotype

When it comes to planning a future together, considering compatibility in terms of sickle cell genotype is an important aspect to minimize the risk of giving birth to a child with sickle cell disease. Here are a few factors to consider:

Testing and Screening

Consider undergoing genetic testing and screening to determine your genotype and assess any potential risks. This can provide valuable information to make informed decisions about family planning and seek appropriate medical guidance.

Partner’s Genotype

Understanding your partner’s genotype is essential. If both you and your partner have the sickle cell trait (AS genotype), there is a 25% chance of having a child with sickle cell disease (SS genotype). However, if your partner does not carry the sickle cell trait (AA genotype), your child will not inherit the disease.

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Optimal Marriage Partners Based on Sickle Cell Genotypes

Understanding the implications of sickle cell genotypes is crucial when considering marriage and family planning. Here are some recommendations for individuals with different genotypes:

Who can AA Genotype marry?

Individuals with an AA genotype have no chance of having children with sickle cell disease. Therefore, they have the freedom to marry individuals with any genotype, as sickle cell is not a concern in their case. They can consider a wide range of potential partners without specific restrictions related to sickle cell genotype.

Who can AS Genotype marry?

AS individuals have a 25% chance of having a child with sickle cell disease if they marry someone with the AS genotype. This risk increases to 50% if their partner also has sickle cell disease (SS genotype). To minimize the risk, it is generally advised for AS individuals to marry partners with an AA genotype. By doing so, the risk of having a child with sickle cell disease is effectively eliminated.

Who can SS Genotype marry?

Individuals with the SS genotype have a 50% chance of having children with sickle cell disease if they marry someone with the AS genotype. The risk increases to 100% if they marry someone with the SS genotype. However, if an SS individual marries someone with an AA genotype, the chance of having a child with sickle cell disease is reduced to 0%. Therefore, it is strongly recommended for SS individuals to consider partners with an AA genotype to eliminate the risk of passing on the disease to their children.

Advances in research have significantly improved the quality of life of people with this disease. It is no longer seen as a death sentence. With the right lifestyle and appropriate care, people with sickle cell disease would enjoy quality life like any other person.