I have already given you an introduction on this condition in my previous post. This is a follow up highlighting the treatment and/or management options available in the medical field both locally and internationally that I have come across. Some are available in Nairobi, Kenya and advice on their use can be sought from the Sickle Cell Disease Clinics listed on this website.

MEDICAL SCREENING

The purpose of the test is to diagnose sickle cell disease or trait. It can be done on any age group; adults, children or babies. The screening test can be done on the EDTA (ethylenediaminetetraacetic acid) blood. Almost every vial of blood contains a preservative called EDTA. It’s a chemical that isn’t found in human blood and prevents it from clotting. Mixed in a sealed vial, EDTA can keep a blood sample liquid for years. Electrophoresis is more accurate and it should be done on a positive sickle cell test. In some rare cases, as a matter of necessity the tests can be conducted on the unborn foetus. However, this normally sparks ethical debates in many circles. Hence, it has to be approached cautiously and needs substantial medical evidence to prove its necessity as an option.

MICRO NUTRIENT SUPPLEMENTS

Adults and children with sickle cell disease (SCD) have increased needs for calories and micro nutrients. In addition to eating a healthy, varied diet, experts recommend taking several supplements that can treat deficiencies, protect bones and provide other protective effects. The following seem to offer benefits when taken in moderate dosages and a medical doctor should be sought before using any of them as some will affect commonly used medications and absorption.

1. Vitamin D (Sunshine Vitamin)
Its a fat-soluble vitamin in a family of compounds that includes vitamins D1, D2 and D3. Your body produces vitamin D naturally when its directly exposed to sunlight. Vitamin D has several important functions. Perhaps the most vital are regulating the absorption of calcium and phosphorus, and facilitating normal immune system function. Getting a sufficient amount of vitamin D is important for normal growth and development of bones and teeth, as well as improved resistance against certain diseases. If your body doesnt get enough vitamin D, youre at risk of developing bone abnormalities such as soft bones (osteomalacia) or fragile bones (osteoporosis).

2. Folic Acid (Folate)
This is a type of B vitamin. It helps to make and repair DNA, and produce red blood cells (RBC). If you dont have enough folate in your diet, you may end up with a folate deficiency. Not eating enough folate can lead to a deficiency in just a few weeks. Deficiency may also occur if you have a disease or genetic mutation that prevents your body from absorbing or converting folate to its usable form. Folate deficiency can cause anaemia whereby you have very few RBCs. This condition affects the functionality of your tissues by depriving them much needed oxygen since RBCs carry oxygen. A folate deficiency during pregnancy can lead to birth defects.

3. Vitamin B12 (Cobalamin)
This is an important water-soluble vitamin. It plays an essential role in the production of your red blood cells and DNA, as well as the proper functioning of your nervous system. B12 deficiency is common, especially in the elderly. Youre at risk of deficiency if you dont get enough from your diet or arent able to absorb enough from the food you eat. Symptoms of a vitamin B12 deficiency can take years to show up, and diagnosing it can be complex. B12 deficiency can sometimes be mistaken for a folate deficiency. Low levels of B12 cause your folate levels to drop. However, if you have a B12 deficiency, correcting low folate levels may simply mask the deficiency and fail to fix the underlying problem.

4. Vitamin B6
It is essential for the production of healthy red blood cells and nerve cells. Vitamin B6 helps in the production of neurotransmitters, the chemicals that allow brain and nerve cells to communicate with one another, ensuring that metabolic processes such as fat and protein metabolism run smoothly, and is important for immune system function in older individuals. It can also help address a number of conditions, including nerve compression injuries (like carpal tunnel syndrome), premenstrual syndrome (PMS), and some cases of depression and arthritis. Vitamin B6 is often used to treat high homocysteine levels along with folic acid and vitamin B12. Memory loss, diabetes, asthma attacks, attention deficit-hyperactivity disorder, kidney stones, lung cancer, acne and atherosclerosis may also be treated and improved via vitamin B6 supplementation.

5. Calcium
Your body needs calcium to build and maintain strong bones. Over 99% of the calcium in your body is stored in your bones and teeth. In the bloodstream, its used to send nerve signals, release hormones like insulin and regulate how muscles and blood vessels contract and dilate. Its so important that if you dont get the recommended amount in your diet, your body will take it from your skeleton and teeth to use elsewhere, weakening your bones. There are recommended lower and upper limits for calcium intake.

6. Omega 3 Fatty Acids
These are incredibly important. They can have all sorts of powerful health benefits for your body and brain. In fact, few nutrients have been studied as thoroughly as omega-3 fatty acids. These acids fights depression and anxiety, improves eye health, provides brain health during pregnancy and early life, improves risk factors for heart disease, reduces symptoms of attention deficit hyperactive disorder in young children, reduces symptoms of metabolic syndrome, fights inflammation, fights autoimmune diseases, improves mental disorders, fights age related mental decline and Alzheimers disease, helps prevent cancer, reduces asthma in children, reduces fat in liver, improves bone and joint health, alleviate cramps, improves sleep, skin and hair growth.

7. Copper
Copper is a mineral found throughout your body. Its a nutrient that your body must have to function properly. You only need trace amounts of this heavy metal. Lead, mercury, and arsenic are examples of heavy metals that arent good for you. But getting copper in trace amounts is essential. Getting too much of it or not enough of it can cause health problems. Copper has an important role in a number of functions, including the: production of red blood cells, regulation of heart rate and blood pressure, absorption of iron, prevention of prostatitis, or inflammation of the prostate, development and maintenance of bone, connective tissue, and organs such as the brain and heart, and activation of the immune system.

8. Zinc
Zinc is a mineral that your body uses for fighting off infections and producing cells. Its important for healing injuries and creating DNA, the genetic blueprint in all of your cells. If youre not getting enough zinc in your diet, you may have side effects such as hair loss, lack of alertness, and a reduced sense of taste and smell. It is used by your body in cell production and immune functions. There is still a lot more to learn about zinc, but we do know that zinc is an essential part of growth, sexual development, and reproduction. When youre zinc deficient, your body cant produce healthy, new cells. This leads to symptoms such as: unexplained weight loss, wounds that wont heal, lack of alertness, decreased sense of smell and taste, diarrhoea, loss of appetite, and open sores on the skin

9. Magnesium
Magnesium is the fourth most abundant mineral in the human body. It plays several important roles in the health of your body and brain. However, you may not be getting enough of it, even if you eat a healthy diet. Its importance include: assists in biochemical reactions in your body, it may boost exercise performance, fights depression, benefits against type 2 diabetes, lower blood pressure, anti-inflammatory benefits, help prevent migraines, reduces insulin resistance, and improves PMS symptoms.

HYDROXYUREA

This medicine activates the bone marrow to produce Fetal (F) Hemoglobin even in adults, which dominates the Sickle (S) Hemoglobin thereby reducing/eliminating symptoms characterized with SCD. Hemoglobin F is naturally present in all human beings until 6 months upon their birth when it is replaced by Normal Hemoglobin as per their genetic makeup. Hydroxyurea therefore reactivates the process initially present at birth. The medicine helps children and adults with SCD. Research studies show that Hydroxyurea lowers: the numbers of acute chest syndrome (pneumonia) events, the number of pain crises, the need for blood transfusions and the number of trips to the hospital. Hydroxyurea also might prevent damage to the spleen, kidneys, lungs, and brain. Hydroxyurea is given by mouth one (1) time each day. It comes in liquid or capsule form. The U.S. Food and Drug Administration (FDA) have approved it for the treatment of adults with severe sickle cell disease. St. Jude Childrens Research Hospital and other medical centers have carried out research studies that demonstrated the safety of Hydroxyurea therapy for young children and infants with sickle cell disease.

GBT440

This is being developed as an oral, once-daily therapy for patients with sickle cell disease (SCD). GBT440 is designed to work by helping haemoglobin, the molecules inside red blood cells hold onto more oxygen as the red blood cells travel through the body. This keeps red blood cells in their normal shape and helps stop sickling. In 2017 the drug was still at its experimental stages.

GENE THERAPY

Doctors hope a recent medical breakthrough could lead to a cure for SCD for an estimated quarter million babies born with it each year. Early in 2017, doctors announced the results of an experimental gene therapy that is offering hope to those who suffer from the disease. A French teenager with the genetic condition achieved complete clinical remission after researchers in Paris injected his stem cells with an anti-sickling gene from his bone marrow. So far it seems to be working for the teen. Fifteen months since his last treatment, the patient is no longer dependent on medication, and his blood cells show no sign of the disease. Clinical studies have begun in other parts of the world to address the disease.

BONE MARROW TRANSPLANT

It is also referred to as Stem Cell transplant. They have been used for the treatment and cure of a variety of cancers, immune system diseases, and blood diseases for many years. Doctors in the United States and other countries have developed studies to treat children who have SEVERE SCD with these transplants. To prepare for the transplant, strong medicines, called chemotherapy. This is done so that the patient does not reject the new blood cells coming from the donor. The actual transplant is given like a blood transfusion through an IV tube. The new bone marrow then produces red blood cells that are healthy (normal) since they do not contain a lot of haemoglobin S. The transplant is the only treatment available today that can CURE SCD. If the transplant is successful, the patient is cured from sickle cell disease. The risks include: infections, graft-versus-host disease (GVHD), graft failure, veno-occlusive disease (VOD), nutrition problems, low blood counts, social and emotional concerns and infertility.

 

References:

  1. Medical Screening
  2. Foetal Screening
  3. Food & Nutrition
  4. Micronutrients Supplements
  5. Hydroxyurea & Bone Marrow Transplant
  6. GBT440
  7. SCD Warriors
  8. Gene Therapy