This article will help predict the genotypes of a baby with the hemoglobin electrophoresis result of its parents regarding sickle cell disease.
Most couples during regular premarital consultations are concerned and anxious about sickle cell issues and often worried about what the results mean, their implications on their relationship, and especially their future babies. There are several other worrisome things to investigate in premarital consultations, but we shall focus on the sickle cell test.
The following are the questions that will always pop up at doctors' offices. Should couples marry on genetic matching or love or for other socio-economic reasons? Can a doctor openly tell a patient not to marry or marry depending on the test results? All these questions are hard to answer, but I will try to elaborate on some points. These points are written down to guide you and are not in any way to be used as the gospel truth. While there is no easy answer to this dilemma, I will try to present available health facts to assist those intending to marry to make an informed decision.
What Is Sickle Cell Disease (SCD)?
Sickle cell disease is very common among black descents and leads to a high sickness and early death rate. There is also a high prevalence (proportion) of healthy carriers. It is one of the genetic diseases that can affect blood (hemoglobin abnormality) and can be inherited from either sickler parents or non-sickler parents. For simplicity, we shall be using sickler and non-sickler to denote the 100% gene carriers (SS) and the 50% (AS) or 0% (AA) gene carriers, respectively. The sicklers often present with chronic, moderate, or severe anemia (hemoglobin less than 8 g/dL and the normal is above 12 g/dL) and often have a vaso-occlusive crisis (repeated and severe painful symptoms). They are predisposed to quickly acquire infections of all sorts because of their vulnerable blood systems.
Choose Right Laboratory for Test:
Do not fall into the trap of doing the test on your own without consultation with a qualified health professional, that is, an expert in premarital counseling, sexual or reproductive health counselor, medical doctor, experienced nurse, etc. Let those experts refer you to the right laboratory with a good track record. You do not want to be given a false report, which can further worsen your psychological state.
Nature of the Test:
The name of the test is called hemoglobin electrophoresis, which is reported as AA, AS, or SS. Also, HbAA, HbAS, HbSS, and others exist. These are just letters representing the sickle cell genotypes. Letter "A" represents the healthy genotype, while the letter "S" represents the sickle genotype. The combination of one of both, as presented above, can predict certain future health outcomes for either you or your baby. If you have an AA-healthy person, AS-healthy carrier, and SS-sickle cell patient, that is to say. Hemoglobin electrophoresis is just a fancy word for the type of technique used to reach that conclusion.
It concerns everyone, especially newborn babies, married and unmarried couples. Everyone should be aware of their hemoglobin electrophoresis status, and not only about blood group ABO and rhesus antigens. They should be aware because it has to help them choose the best genetic match for procreation (giving birth). By this, I meant to say that couples can avoid giving birth to sick babies by marrying partners who will be less likely to provide them with children that will be sick.
Love is indeed the main reason many couples use to get married, but those who soon face the challenge of giving birth to sick babies will realize that their love will not be enough to alleviate the pain and sufferings of their child. I am not in any way insinuating that couples at risk of giving birth to sickler babies should not marry, but I will present points that can help them decide if they wish to proceed with the marriage. It is worth noting that most sicklers do not survive more than the age of 19 years, and those that manage (with access to the latest treatment protocols) can make it up to around 40 to 50 years. It is also true that our life expectancy at birth is only 56 years, but with a sickler, it is like living with a gun pointed at your head all the time and not knowing when the shot shall be fired.
Implications of Marrying a Good and Bad Genetic Match:
The consequences are simple: the increased likelihood of giving birth to a sickler baby. Besides this particular outcome of the bad genetic match, there will be other sociocultural, socioeconomic, and socio-psychological implications.
It is a good thing for the couple who can love each other and be lucky to be a match. But those who can find each other and be lucky at the same time will simply get frustrated finding the right genetic match. Good matching will give birth to healthy babies and fewer cases of sickle cell, hence moving towards the complete elimination of sickle cell disease. It is, of course, an almost impossible target ever to reach because of the sociocultural implications involved.
During screening (premarital testing) a couple will need first to be counseled on this particular aspect and be presented with the possible outcomes and implications for them. They will have to discuss with their healthcare provider, be very open by asking questions, and be ready to answer questions. They will then be sent to the choice laboratory, and a blood sample will be collected, analyzed, and reported. Your doctor will likely request other sexually transmitted diseases tests like HIV, syphilis, chlamydia, etc.
First, let me elaborate on genetic matching and marriage.
When you obtain your test results, they will either be AA, AS, or SS. The SS is hardly diagnosed in adulthood because they must have been sick several times by then. So, most adults with sickle cell anemia are already aware and coping with the condition and will most likely not want to marry another sickler, though there are a few rare cases. I used the word rare case because they are the result of two sicklers getting married despite knowing that they will automatically give birth to a sickler baby. There is no going around that; it is a 100 % chance (SS x SS = SS).
They are good to go; that is, they can marry any other type AA or AS, or SS and will still give birth to all healthy babies who can either be carriers (AS) or normal (AA).
Here comes the trickier ones, the couple that is either AS marrying AS or AS marrying SS. The first couple has a 25% chance of giving birth to a healthy non-carrier (AA), a 50% chance of giving birth to the good carrier (AS), and a 25% chance of giving birth to a sickler (SS). The second couple has a 50 out of 50 chance of giving birth to either a healthy carrier (AS) or a sickler (SS). The word chance here means that each time a woman is pregnant, she runs the possibility of giving birth to any baby described above.
For example, if Mrs. Y, who is AS, becomes pregnant and her husband, Mr. X is AS, they will most likely give birth to a child who is not a sickler at 75% chance (AS or AA) and less likely to give birth to a child who is sickler at 25% chance. In other words, if she should give birth to four children, three will most likely be non-sicklers while one will most likely be a sickler. It is purely a mathematical expression and will not be given the complex biological nature of life itself.
I believe by now the above criss-cross must have given you a headache. Relax, there was no easier way to present the above. So, after the report, if you see that your chances of giving birth to a sickler baby are high (more than 50 to 100 %), it is best you reconsider having babies. I make mention of having babies because a couple can still marry without having babies and alternatively adopt. But in our context, we are not yet up to that point where a couple can marry and decide not to get biological children for one or more reasons. In this particular context, it is better for the couple to abstain from getting married altogether, especially if they are aware that not having a baby after marriage is not an option. This will help to minimize the risk of giving birth to sickler babies completely.
On the other hand, if their chance of giving birth to a sickler baby is below 50%, then the couple can still risk trying to have a baby as the chance of having a normal baby is high. As I said before, these percentages are not absolute predictions or will not happen. One could become sickler and the rest normal for every four children. In many cases, all the children can be normal. In some, the first child can be the sickler, and in others, all the babies can be sicklers. Since these happen randomly during the reproductive cycle (from sex to conception), one cannot predict in absolute terms which baby will come first.
I know a couple who had twin males (first birth), one is a sickler, and the other is a healthy baby. The only explanation for this is that they are non-identical twins because if they were identical, they both would have been either normal or sicklers. Some years later, the same couple gave birth again to another set of twin females, but both came out negative for the sickle cell test. It is just to tell you that there is no 100% certainty when it comes to the AS/AS or AS/SS combinations, except the AA/others or SS/SS combinations which have 100% certainty of the outcomes.
Children who have sickle cell disease do not have pain, but adolescents and adults may experience chronic and ongoing pain. Sickle cell disease can harm the eyes, spleen, heart, brain, kidneys, lungs, liver, penis, joints, bones, or skin of a patient.
Sickle cell disease is usually an inherited condition, which affects red blood cells. The two genes for sickle hemoglobin are inherited from either parent to have the disease. A person who inherits a gene for sickle cell disease from one parent and a healthy gene from another parent has a condition called "sickle cell trait.".
Sickle cell anemia which a common inherited disorder the can be commonly seen in Africans and African Americans. About 1,00,000 Americans in the United States have affected by this disease.
Sickle cell anemia is caused due to the mutation in the gene which commands to produce red blood cells. The disease can be seen in children, usually at birth. The child will have two inherited gene which is acquired one from each parent.
Patients with sickle cell disease can be cured by stem cell transplantation and without the necessity for chemotherapy. Stem cells are young cells in your bone marrow that mature into new red or white blood cells and platelets (cells that form blood clots).
Patients with sickle cell disease should avoid the following things:
- Avoid drinks that consist of alcohol and caffeine, which causes frequent urination.
- Avoid fatty foods.
The hemorheological changes recognized in older patients will help develop various chronic disorders in sickle cell disease, whose prevalence develops with age. Delaying these age-related hemorheological impairments by administering suitable drugs may reduce the risks of vaso-occlusive events and chronic disorders.
Sickle cell disease (SCD) is linked with cold weather. Patients with SCD show hypersensitivity to thermal stimuli implying peripheral or central sensitization may remain and could lead to SCD pain.
Diclofenac and ibuprofen are regular NSAIDs used in sickle cell anemia patients. But if the pain continues, an opioid can be combined with it. Moderate-to-severe pain usually is managed with opioids. For mild pain, a weaker opioid such as codeine may be adequate. Pain in sickle cell disease is defined as chronic if it persists for three to six months or more. The etiology of this chronic pain in sickle cell anemia is unknown, but it may due to the continuation of the recurrent painful episodes. Chronic pain often is correlated with neuropathic pain, which is caused by nerve damage.
The patient with sickle cell needs to stay hydrated. Drinking water improves healthy blood flow and decreases the risk of the red blood cells sickling and clinging together. It keeps the blood cells flexible so they can flow more freely inside the blood vessels.
Patients with sickle cell disease should maintain good health. Protein and oils are good foods for Sickle Cell Patients. They should eat lean protein, fruits, and vegetables, whole grains, and proteinous food such as lean chicken, fish, pork, lean beef, shrimps, sardine, beans, pumpkin seeds, cashew nuts, walnut, vegetable oil, peas, liver, and egg yolk, should be given to sickle cell patients from time to time.
All vitamins work mutually with each other to give the body the proper function it needs. In this case, vitamin B12 works better along with B6 and Folic Acid to control Homocysteine levels, which leads to strokes. Homocysteine is a naturally occurring amino acid located in blood plasma.
Even if you have sickle cell disease, you can have a baby, but both you and your partner and the baby need to get tested for the disease because you have an extended chance to have a baby with sickle cell anemia. Once you had a child with sickle cell disease, there is a 25 percent chance with each following pregnancy for another child to be born with sickle cell disease.
Last reviewed at:
24 Dec 2021 - 6 min read
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