Sickle cell disorder: Freqently asked questions (I)
By AZOMA CHIKWE
Tuesday, March 27, 2007

• Eyitayo Lambo, Health Minister PHOTO The Sun Publishing

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Sickle-cell anemia is an autosomal recessive genetic disease—that is, a child with the disease must inherit one copy of the defective hemoglobin gene from each parent. Many people carry one hemoglobin S gene with no significant health problems as a result. But these carriers of the sickle-cell gene can pass the gene to their children.

When both parents are carriers, they have a one in four chance with every pregnancy of having a child with sickle-cell anemia.
Sickle-cell anemia is caused by a defective gene that produces an abnormal form of hemoglobin, the component of red blood cells responsible for transporting oxygen from the lungs to the tissues.

The abnormal hemoglobin, called hemoglobin S, distorts red blood cells after they release oxygen in the tissues. These distorted cells are called sickled cells because of their resemblance to the sickle, a type of crescent-shaped cutting blade used in agriculture. The sickled shape makes it difficult for these cells to pass through tiny blood vessels, resulting in intensely painful blockages that prevent vital oxygen and nutrients in the blood from reaching organs and tissues, impairing their function.

As a result, sickle-cell patients are also vulnerable to a number of infections. When the blood flow to the brain is affected, sickle-cell patients may experience brain damage, such as stroke. Sickle cells also break apart more readily than healthy red blood cells, leading to a deficiency of red blood cells, known as anemia. The following questions are frequently asked.

We hear so much about sickle cell nowadays. Is it a new disease?
Sickle cell disorder (SCD) is not a new disease. Experts agree that the disorder is about as old as the African race and its first description was not until 1910. Subsequently, SCD has become a prototype for modern molecular disease.

Before now, patients with SCD typically died before reaching adulthood. As a result, health care delivery systems defined the disease as a pediatric condition. Today, advances in the management of pediatric SCD have led to improved patient survival and quality of life. Newborn screening programmes and comprehensive care for children with SCD have made it possible for majority of patients to survive into adulthood.

Furthermore, because of the similarities of the physical features of children with SCD especially those born to the same family, the traditional belief about ABIKU (Yoruba language) OGBANJE (Igbo) syndrome (meaning born to die) flourished more so in the rural areas of Nigeria. Currently, aggressive efforts are being made to reduce or completely stop further occurrence of the disorder via health education and mass media enlightenment programmes.

Is it true that sicklers don’t live beyond the age of 21?
It is not true! There is no reason a sickler would not have the same life expectancy as a non-sickler except that they run the risk of having frequent intermittent pain crisis, fatigue, bacterial infections and progressive tissue organ damage. The affected individuals and their families suffer a burden of anxiety, frequent illness, excess mortality rates and financial cost, needlessly aggravated by ignorance and a palpable lack of appropriate services and research. Nevertheless, with optimal management, patients can now survive beyond the fifth decade.

We hear there is a local chewing stick which is effective against the disease?
This chewing stick is known as Fagara Zantholoides popularly known as Orin Ata. It has a peppery taste. It was discovered about 30 years ago in Nigeria. It is an excellent root of a plant for cleaning teeth, especially in West Africa. It also has an anti-inflammatory effect on the gum and also anti-sickling property. This means that a sickled red cell can be made round again if one puts the juice of the plant on the sickled cell under a laboratory microscope.

Through studies, some patients claim that when given the extract of Fagara to drink, health is improved. On the other hand, some other patients do not seem to derive any positive benefit from such a treatment. This is expected because the causes of sickle cell crisis are many and varied. There is no evidence that Fagara removes any trigger factor which gives rise to crisis like malaria, pneumonia, gastroenteritis and fatigue.

What is Jobelyn?
Jobelyn is an extract of sorghum bicolor. It is a unique product which combines the qualities of a natural food product with that of powerful antioxidants that exhibit many useful medical properties.

What are antioxidants?
Antioxidants (e.g. Jobelyn) are substances that neutralize and remove dangerous chemicals in the human body. These chemicals are called Free Radicals and by their activities could destroy many things in the human body, causing diseases and ageing.

What are Free Oxygen Radicals?
These are unstable rougue molecules formed in the cells during the manufacture of energy used for intracellular functions. Free oxygen Radicals aggressively seek to steal electrons from other molecules within the cell in an attempt to stabilize themselves. In this way, Free Oxygen Radicals cause extensive damages to intercellular proteins, DNA , RNA, genetic molecules, cell membrane lipids and other essential molecules.

No doubt the red blood cells usually suffer extensive damages and survive for about 120 days; that is if it has the strong AA- molecular structure. Afterall red blood cells have the most powerful oxidant-oxygen all around the vascular network. Now imagine if a weaker Hb-molecule, like those with the sickle cell traits S-C-D-E etc. These molecule normally do not stand a chance to survive, carrying a powerful oxidant like oxygen within them, thus are destroyed within 20-40 days. This could even be less in some cases.

Jobelyn as a powerful antioxidant is 3,123 times more powerful than vitamin E,and usually protects the Hb-molecules from early destruction – they survive longer and the SCD – patient is free form crisis for longer period. Since Jobelyn antioxidant, protect every cell of the human body from oxidative stress, its immediate benefit to the individual well being are far reaching, as it impressively:

• Strengthens, energizes and maintains the body’s immune system
• Restores the balance of cell structure within the body
• Corrects metabolic disturbances
• Deters chronic diseases and disorders from developing in the body
• Slows down ageing and age related ailment
• Helps the body to maintain a good blood packed cell volume (PCV)

Is it true that Hb.SS (SCD) can be diagnosised before the child is born?
Prenatal diagnosis (before birth) of sickle cell anemia is possible using amniocentesis or Chorionic Villus Sampling. The sample obtained is then tested for DNA analysis of the fetal cells. Amniocentesis is a procedure whereby fluid is extracted from the amniotic sac. The amniotic sac is the fluid-filled structure inside the pregnant uterus within which the baby lives. Fetal cells, proteins, and fetal urine freely move within this sac.

During amniocentesis, fluid is removed by placing a long needle through the abdominal wall into this sac. Sometimes, the woman's skin is injected first with a local anesthetic, but this is not always necessary. Occasionally, the amniocentesis needle is guided into the sac with the help of ultrasound imaging. Once the needle is in the sac, a syringe is used to withdraw the clear amber-colored amniotic fluid, resembling urine. The volume of fluid withdrawn depends upon the age of the fetus and the reason for the testing. Data obtained from amniotic fluid can help women make informed decisions regarding their pregnancies and babies. For most patients, amniocentesis is a fairly quick and comfortable procedure. Some women experience some uterine cramping or a feeling of faintness.

What attitude should parents and friends of SCD patient have towards them?
Sickle cell disease is often misunderstood and misrepresented because of ignorance and tribal practice to the detriment of the affected person. Some parents often receive the diagnosis of SCD in his child with rude shock. He/she may even doubt the diagnosis and one parent may blame another. A semi – literate father once blamed the arrival of a sickler on a dream he had before the child was born, when some one had hit him with a farmer’s sickle! There is no doubt that ignorance about the disease abound. Understandably, even those with full knowledge of the disease, on discovery of a sickler child in the family is not a moment of joy. This is expected if they think of the recurrent illness, sleepless and anxious night ahead of the family. A child with SS genotype has inherited one S from the father and another S from the mother. By this understanding, parents should support each other at all time. Parents should also understand the peculiar problem of their child. Some parents expect their sickler child to do equal task of physical household duties as the other children. Without being discriminatory, the parents should seek the cooperation of other children when allocating domestic duties. Parents are warned against inflicting physical punishment. They may be causing more problems for the child and themselves. The role of friend should be that of support and emotional care and not of pity.