Photo credit: African Sickle Cell Disease Journal

Sickle cell Disease, SCD, is the commonest hereditary disorder

 

SCD is present mostly in blacks

 

Individuals of Central African Republic descent are at an increased risk for overt renal failure, a complication of the disease

 

According to research, it contributes substantially to mortality in children younger than 5 years in sub-Saharan Africa

 

One in every ten African-Americans has sickle cell trait, and one in five-hundred has sickle cell disease

 

Sickle cell disease is thought to have developed in areas of the world where malaria is present, because sickle cell trait provides some protection from malaria

 

There is still no universal cure for sickle cell disease.

 

 

I’m a 19year old female student of federal polytechnic Bida, Niger state. I have been having bone crisis since childhood when I was told I’m SS. I feel bad whenever anybody calls me a sickler, but the truth is I fall sick too often. Based on what people say about SS, does it mean I won’t live past 25years? Priscilla

 

I’m a 28year old working class. I recently tested my blood type and I was told I’m AA. Of what value is this result to me? Is there any lady I cannot marry? Ademola

 

A man once brought his 10year old son to my consulting room. Mere gazing at this boy I could see, even at a distance, about 3 to 4 habitus of SCD (SEE THE HABITUS OF SICKLE CELL DISEASE HERE) so I already had an idea of what I was going to be dealing with. Because managing SCD is not uncommon—sickle cell crises are one out of about ten significant cases we see regularly amongst children and young adults—So I thought I wouldn’t be spending a lot of time with this otherwise stable young patient. However, the first few words that came out of the father’s mouth changed whole lots that afternoon…

He said,

‘Good afternoon, Doc. This boy (he meant his son) is a sickler…’

Before he could continue with his boy’s presenting complaints, I had to interrupt.

What a poverty of attitude! his own son? I said to myself angrily.

‘If this man has got such a negative attitude towards his boy’s illness, how is he going to ever face the reality of living with the disease (because by implication, he has become a person living with sickle cell disease) talk more of helping his child fight through psychologically.’ Those were my thoughts that day.

Afterward, I had to devote a solid 1hour to not only counselling the child but more particularly changing the father’s mind-set on how to positively passive SCD as a manageable disease entity and not, out of ignorance, discriminate these patients by calling them sicklers. Despite the problems encountered by SCD patients, I did emphasize how positive attitude can change whole lots about his child’s disease.

READ MORE ON HOW POSITIVE ATTITUDE CAN CHANGE THAT SICK-STATE

Talking about people living ‘positively’ with SCD, I was reading through SCD journal when I came across the stories of Alhaja Asiata Aduke Onikoyi-Laguda, Birney Smith, Wale Fanu, Judy Gray Johnson, and Ernestine Diamond. Their stories left me wandering excitedly in wonderland. Why? Because such people could overtly defile laws of medical science. I particularly became engrossed with the story of Alhaja Asiata Onikoyi-Laguda, tagged The Woman Who Conquered The Sickle , who at 90years was said to be the oldest person in the world with SCD. At this age, as she was celebrated in her finery, would anyone have called her a sickler?

 

According to SCD journal,

1. She is under no dietary restrictions whatsoever: eats salt, eggs, meat, sugar, fried food, etc. as she likes

2. Her blood pressure hovering around 160/90

3. She has performed the holy pilgrimage to Mecca 13 times and Umrah half a dozen times

4. She observed the annual 30-day Ramadhan fast until she was over 88 and pressured to discontinue by her children

5. She reads Bible, Quran everyday with glasses but moves around without glasses

6. She takes public transport in super-chaotic Lagos

7. She gave birth to six children, all by normal delivery. When only son passed away in August 2014 aged 59, she accepted the will of Allah but prayed, “Please let the rest of the children you gave me outlive me.”

 

This woman had her share of socio-cultural problems of SCD while growing up, especially in a community that see people like her as sicklers. She was, most often times, on her own, abandoned by friends and even family members. She was called ‘spirit child’, who was destined to punish her parents with frequent unrelenting illness and eventually die young. Because of sickle cell disease, she couldn’t start school until age 12, and thereafter was left out of school on many occasions because of her illness.

Now, knowing that SCD is not a death penalty that is being passed on to it’s victim before adulthood, what exactly do you need to know about SCD and what can one do to prevent life-threatening complications, so as to have that possibility of a longer life-expectancy?

 

What does it mean to say SCD is an hereditary disorder? Hereditary diseases are diseases that can be passed down to the offspring by the parent (s). Traits that are inherited are usually but not always genetic. Inherited traits that aren’t genetic are called epigenetic NB: Also, a genetic disorder is usually, but not always inherited. For instance, somatic mutations occur in the tissue but not in the gametes(eggs and sperm). Cancer is caused by these types mutations. Most types of cancer are not hereditary

 

What is Sickle Cell Disease?

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Photo Credit: MedicineNet. Inc.

 

This hereditary disorder (autosomal recessive disorder) was first described in 1910 by an American Physician, James Bryan Herrick. He saw sickle red blood cells on the blood film of a medical student, it was from this student the disease was first described as Herrick’s Syndrome and later changed to Sickle Cell Disease.

By a way of definition, it is a group of genetic blood disorders caused by the presence of an abnormal form of haemoglobin. These haemoglobin (Hb) molecules tend to aggregate after unloading oxygen, thus forming long, rod-like strictures that force the red cells to assume a sickle shape—Sickle cell. Unlike normal red cells, which are usually smooth and malleable, the sickle red cells cannot squeeze through small blood vessels.

Common examples of these disorders include sickle cell anemia (Hb SS); the sickle-beta thalassemia syndromes; Hb SC, Hb SD, Hb SO diseases.

 

In Sickle cell anemia, the red blood cells become rigid and sticky and are shaped like sickles or crescent moons. These irregularly shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body

 

How do the problems of SCD arise?

When the sickle cells block small blood vessels, the organs are deprived of blood and oxygen. This leads to periodic episodes of pain and damages to vital organs that are seen in sickle cell disease patients.

Conditions that can deprive an abnormal haemoglobin oxygen hence making it aggregate, polymerize or form sickle shape thus potentiating a sickle cell crisis may include:

temperature changes,

stress,

dehydration,

high altitude,

infection and other disease conditions.

 

What are these abnormal haemoglobin?

The haemoglobin, Hb is that molecule in human red blood cells that is chiefly responsible for transporting oxygen in and out of our cells and tissues. The normal adult Hb is termed Hb A—A for adult, which has two alpha chains and two beta chains.

However in SCD, problems result from mutation at genetic level which results to production of abnormal beta globin chains. The normal adult Hb, (usually when written as haemoglobin AA, the AA represents the two normal beta chains), thus becomes the abnormal haemoglobins: Hb SS, SC, SD, SO (SS, SC, SD, SO representing the two abnormal beta chains of the haemoglobin)

If a person has beta chains of his or her haemoglobin carrying one normal chain and one abnormal chain (Hb AS, AC e.t.c), that person is said to be a carrier, that is, having sickle cell traits. No disease state, but may produce offspring with Sickle cell disease if he or she marries another carrier or someone with the disease.

 

How can an unborn child inherit these abnormal haemoglobins?

1. Sickle cell diseases may occur when a child inherits the gene for sickle haemoglobin from one parent and another gene for sickle haemoglobin from the other parent, thus completing the two abnormal beta chains and forming abnormal Hb SS—Sickle Haemoglobin

This happens either when both parents are carriers,

Hb AS + Hb AS has a 25% chance of producing Hb SS at each pregnancy. That is, there is 1 in 4 chance that the unborn child carries Hb SS. Consequentially, there is 3 in 4 chances that the same child carries normal Hb. Thus, two carrier couples may be unlucky to have all their offsprings carrying Hb SS or may be lucky to have one HbSS or non at all. The illustration below therefore is a function of predictability per pregnancy.

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Or when one or both parents have the disease condition:

Hb SS + Hb AS has 50% chances of producing Hb SS at each pregnancy.

Hb SS + Hb SS has 100% chances of producing Hb SS at each pregnancy

 

 

2. SCD can also occur when a child inherits the gene for sickle haemoglobin from one parent and another gene for abnormal haemoglobin ( other than sickle type) from the other parent producing either of Hb SC, Hb SD, Hb SO Arab, Hb SE.

 

3. The disease can also occur when a child inherits the gene for sickle haemoglobin from one parent and another gene that limits haemoglobin production from the other parent (sickle beta +/0 thalassemia).

 

4. In S beta (+) thalassemia there is some production of beta globin, and in S beta (0) thalassemia there is no production of beta globin.

 

 

What are the problems of SCD patients?

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Photo credit: Google image

 

These problems usually start from infancy, while some receive their sickle cell primer as early as 6months when the foetal haemoglobin is gradually waning, many may not start battling with crises until around 2 years of age ( at this stage, the protective foetal haemoglobin is already waned completely). The most common problem at this stage is, Painful hand and foot swelling: the hand and foot become swollen and painful, usually around the joints like the wrist, hands, and leg.

As child grows, he or she may experience the following

Vaso-occlusive crises (VOC). This may present as painful bone crisis, acute chest syndrome.

There could also be abdominal crisis. Patient may present with painful abdominal swelling, which may result from acute sequestration.

Acute sequestration crisis may result into emergency when there is hypovolemic shock which results from massive pulling back of blood.

Frequent anaemia may also occur from hyper haemolytic crisis, aplastic crisis and acute sequestration crisis. Patient may often present with yellowness of the eyes because of hyper haemolytic crisis.

Because of damage to the spleen, SCD patients are also predisposed to frequent infection.

Complications like early onset stroke, priapism, chronic renal failure, sickle cell retinopathy may occur in severe cases.

With chronicity of SCD, psychological problems, such as depression, anxiety, and chronic pain behaviour may arise, hence proper counselling is crucial.

 

What are the problems I may encounter during pregnancy?

There are SCD women who have delivered on their own without life-threatening problems, and many more have been stringently monitored through the course of pregnancy and undergone elective caesarean section to avoid birth complications. However, generally during pregnancy the crises increase in frequency; placental infarction is common, and there is a high abortion and stillbirth rate. There is an increase in premature delivery, and damage to the uterus may cause it to rupture during labour. The anaemia adds to the risk of cardiac failure during pregnancy; there is also an increase in maternal mortality resulting from pulmonary embolization by bone marrow during pregnancy and the puerperium.

 

I don’t have the above symptoms of SCD, why is it important for me to still know my genotype?

Sometimes because of absence of features of SCD, one may not deem it necessary to have a Hb genotype test done. The importance is usually stressed in genetic counselling before marriage.

How feasible is it for Hb SS patient to marry Hb SS partner? Frankly speaking, from the simple Mendelian pattern of inheritance (I call it law of predictability), these couples could be heading to hell before physical death, as there is 100% predictability for a child with Hb SS—4 in 4 chances per pregnancy, you would smile to that I guess. What about a partner with Hb SS marrying a carrier partner (Hb AS or Hb AC)? Or two carrier individuals getting married? All these combinations, considering their possibility of having a child with Hb SS, may not be advisable!

The most ‘medically’ advisable and safe marital choice for anyone having abnormal haemoglobin, either as a carrier or as sickle cell disease patient, is a person who carries a normal haemoglobin (Hb AA).

 

 

How can I know my Haemoglobin genotype?

Hb Genotype test is one of the basic laboratory tests run in almost all medical laboratories. The commonest test methods include:

Haemoglobin S solubility test and sodium metabisulfite test. Another method is the haemoglobin electrophoresis. In an infant less than 6months, the former method may give a false negative result because of the predominance of Hb F (which is the foetal haemoglobin). In the developed countries, Pre-natal testing (during pregnancy) is more practiced. This is done by taking sample of the amniotic fluid via amniocentesis and testing it. This method is now what is being used for prenatal diagnosis and eradication of SCD; a foetus with Hb SS is thus aborted and not allowed to be carried to term.

In a situation where a patient’s haemoglobin genotype is required and he or she has just had a blood transfusion from an Hb AA donor, it is advisable to wait for another 6months before testing for the Hb genotype. This is because the patient now carries, predominantly, his or her donor’s haemoglobin and it is assumed that 6months is a long enough time for old red blood cells to die out (NB. Lifespan of R.B.C is about 120days), hence when tested before 6months after transfusion, it may result in false negative result.

 

If I carry any of the sickle cell diseases, how can I find help?

Well, most SCD patients in this part of the world were diagnosed while presenting with any of SCD problems—usually as unstable patients. At that stage, they are managed as appropriate and discharged on periodic clinic visits.

Peradventure you ran your routine blood tests and detected you carry Hb SS or Hb SC, I would advice you to rerun the test for the possibility of error, considering you have never had a sickle cell primer. If the repeat test still shows Sickle cell disease, then visit the specialised sickle cell clinic.

Some tertiary health institutions have specialised sickie cell clinic, which may be held weekly.

At the clinic, specialised sickle cell disease counselling is done. You would be told all the trigger factors like I listed above and how best to avoid them.

You would be prescribed daily folic acid, which has an important role in preventing anaemia

Malarial prophylaxis, to prevent malaria which may trigger crisis

Adequate water intake; aggressive rehydration reverses sickling and polymerization of abnormal Hb.

In moderate pains, analgesics like NSAIDS are effective.

Prophylactic antibiotics are sometimes prescribed.

The most definite treatment of SCD is bone marrow transplantation. Well, there is always that possibility of graft rejection.

 

In conclusion, any hopes?

Whether you are an SCD patient or a person living with SCD, this post is to encourage us look beyond giving up on ourselves or losing that tinge of hope that keeps us fighting because Twenty-five years ago, a person with sickle cell disease was not expected to live to adulthood, and the average life span was 21 years. Today, the outlook is much more optimistic, and many people are living beyond age 50.

 

 

References

1. Ayoola Olajide. The Woman Who Conquered The Sickle. African Sickle Cell Disease Journal. 2015. Page 5, 6

2. Joseph E. Maakaron, MD. Sickle Cell Anaemia. Medscape. 2016. App. V 3.3.2

3. Konotey-Ahulu FID. Probability of Sickle Cell Disease Patients. The Resource To The Sickle Cell Disease Patient. Sicklecell. MD

4. William C. Shiel Jr, MD. Sickle Cell Disease. Definition of Sickle Cell Disease. MedicineNet. Inc.

5. Tosin Fwemida. Ancient of Days: The Woman Who Outwitted SCD. African Sickle Cell Disease Journal. 2015. Page 8

6. Fatima Garba Mohammed. Onikoyi The Taming of The Sickle. African Sickle Cell Disease Journal. 2015. Page 10.

7. Indiana Haemophilia and Thrombosis Centre, Inc. Simple Facts About Sickle Cell.

 

 

 

 

 

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