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Doctor's Appointment | Know your sickle status

Published:Wednesday | January 25, 2017 | 12:00 AM
Dr. Sara Lawrence (left) stresses the key points, as Professor Jennifer Knight-Madden emphasises about the need for dehydration for persons living with the sickle cell disease.

Did you know that one in every 15 Jamaicans carries the sickle-cell trait or that sickle cell disease (SCD) occurs in one in every 150 births? That means some 186,666 Jamaicans carry the trait and 10 per cent of their offsprings will have the disease and eventually grapple with a pain crisis. These numbers, however, continue to increase because persons do not know their sickle status.

On last Sunday's 'Doctor's Appointment', host Dr Sara Lawrence explored SCD with guest, Prof. Jennifer Knight-Madden, professor of paediatric pulmonology and clinical research, and director of the Sickle-Cell Unit in Jamaica.


It's a matter of Blood


Sickle-Cell disease is a group of genetic disorders that affect the blood, specifically, hemoglobin, the molecule in red blood cells that deliver oxygen to cells throughout the body. Persons with this disorder have hemoglobin molecules that are commonly referred to as haemoglobin S, which distort red blood cells making them sickle, or crescent shape.

Knight-Madden noted that a person has to inherit specific genes from one of his/her parents, one of which must be 'S', to be affected. In the most common type of the disease, an individual receives an 'S' gene from both parents but in some cases persons receive haemoglobin S or haemoglobin C. Abnormal cells can disrupt regular blood flow and other internal processes as regularly (round) shaped cells are blocked by C-shaped or S-shaped cells that bundle together or stick along the lining of vessels, resulting in a variety of signs and symptoms that can evolve during a person's lifetime.

Signs and symptoms include:

- Painful bouts of moderate to severe bone pain

- Bone damage, especially the hip joint

- Jaundice (yellowing of the skin, white of the eyes and inner linings of the body)

- Lethargy (extended periods of weakness and lack of energy)

- Painful leg ulcers (sores around the ankles)

- Increased susceptibility to infections

- Splenomegaly (enlargement of the spleen)

- Kidney disease

- Sickle retinopathy which can cause loss of sight and strokes.

However, it must be noted that a wide range of complications may develop in any organ of the body due to the fact the blood, which is compromised, travels around the entire body, Prof. Knight-Madden pointed out.

Compared with the African-American population where only one in every 375 will be born with the disease, the occurrence and impact of SCD in Jamaica is relatively high. This risk is higher among Jamaicans as approximately 15 per cent of adults are likely to have children with SCD because they are unaware of their blood status as sickle-cell trait carriers. A trait means a person has one of the required abnormal haemoglobin gene materials needed to develop full SCD. While it is not certain that two persons with a trait will have a child with SCD, there is a one in four chance of this happening with every birth. Persons who have SCD and reproduce with a person who has the trait have a one in two chance of having a child with SCD. If both parents have the disease, the child is certain to have it as well.


Penicillin, Vaccines and Education


Having the disease can significantly shortens a person's lifespan. This threat is greatest in the first four years of life. Consequently, the government has introduced newborn screening in an attempt to overhaul the way sickle cell disease is observed. Once abnormalities are suspected, parents are contacted to confirm their blood status and if positive for the trait or disease, the child is enrolled into a clinic for treatment. As

Knight-Madden explained, a combination of penicillin, vaccine therapy and teaching parents how to palpate or apply pressure to the abdomen daily is the hallmark of treatment available at various centres across the island. This reduces the risk of death before five years to odds that mirror the general population. Jamaica is the first nation in the world to have such broadscale intervention.

Meanwhile, medication such as Hydroxyurea is also used to reduce the number of painful crises caused by the disease and to reduce the need for blood transfusions. Gene therapy, though expensive and unavailable locally, is a tested option for curing the disease.


Triggers and Coping Mechanisms


Triggers of SCD signs and symptoms are numerous and some can be prevented or controlled. Some of the more popular triggers include swimming in cold water, staying wet, over exercising or exertion. While symptoms of the SCD are not always preceded by a trigger, it is usually helpful to have over the counter pain medication on hand, get long periods of rest and maintain hydration.

If further help is need, do not hesitate to visit a local doctor for assessment, especially in cases where there is acute chest syndrome which has symptoms including fever, cough, excruciating pain, sputum (saliva and mucus mixture) production, shortness of breath, or low oxygen levels. This is the second most common reason for SCD patients being admitted to hospital. It presents like pneumonia but there may or may not be an infection. It is particularly important to seek professional help as it can easily result in death if there is in fact an infection.

- Join us next week on Sunday at 5:30 p.m. on TVJ when we look at childhood obesity with guest, Dr Leslie Gabay. Doctor's Appointment is a family and health-oriented television programme that is produced by Maverick Communications Limited (formerly Maverick Communications and Associates).