Blood Sickle Cell Disease: Etiology and Treatment

Introduction

Sickle cell disease is very prevalent among people who trace their decent from Africa, South America, the Panama, the Caribbean countries, countries that lie within the Mediterranean region and the Saudi Arabia. Sickle cell disease is one of the major health concerns in the Eastern regions of the Saudi Arabia. Sickle cell related complications account for at least 20 per cent of the total patients admitted in the children’s wards. The major threats that sickle cell disease manifests itself in the acute chest syndrome among the children. in fact complications related to acute chest syndrome account for 25 per cent of deaths caused by sickle cell disease (Desai & Dhanani 1). Prevalence of sickle cell disease in the eastern province of Saudi Arabia is benign compared to other regions in the Saudi Arabia and the rest of the world hence the need for its acute characterization. Acute chest is indeed significantly more significant in sickle cell anemia than in any other sickle cell disease variants. Despite the fact that acute chest syndrome is shown to be more pronounced among children aged between 2 to 4 years, similar patterns are also characteristic among the patients whose ages fall between 2 to 10 years. However frequency decrease as the children approach ages 11 to 12. The frequency is very low among patients aged below 2 years. The essay seeks to investigate why blood sickle disease is a very common inherited disease in Saudi Arabia, by explaining the condition in detail and by illuminating how slight change in primer structure of protein accelerates sickle cell condition.

Sickle cell disease is normally inherited. Patients with sickle cell disease normally have disc shaped red blood cells. The shape of the red blood cells contribute to the painful experiences associated with the disease, the serious infections associated with it, incidences of anemia among patients, and subsequent damage to organs of the body. The complications however vary depending on the type of sickle cell disease one has. Early diagnosis, especially among children ensures that they grow a healthy and a productive lot. Genes one inherits from the parents determine the form of sickle cell disease one has. In most cases, there is a high probability of individuals who have inherited sickle cell genes suffering from sickle cell anemia. Sickle cell characteristics are usually evident in cases of sickle cells gene inheritance from 1 parent while the other normal genes come from the other. Currently, blood tests can be used to prove whether one possesses a sickle disease or a sickle cell trait (Smith, Wally, and Lynne & Bovbjerg 94). Individuals with sickle cell characteristics may not suffer from the disease. However, they can transmit the trait to their offspring through gene inheritance. Children with both parents having sickle cell traits have 25 per cent chance of developing sickle cell disease. There is a 50-50 chance of children born of parents possessing either the sickle cell trait or disease having the disease.

Etiology of sickle cell disease

Hemoglobin found in the red blood cells helps in facilitation of oxygen transportation by the red blood cells. Hemoglobin has alpha and beta chains. This disease leads to distortion of red blood cell shape from their normal shape to being C shaped. Normal red blood cells move easily through the blood vessels as opposed to stiff and pointed sickle cells which tend to get stuck in the slightly narrow vessel thus contributing to the blockage of these vessels jeopardizing blood flow. This contributes to excess pains sickle cell disease patients complain about. In extreme conditions, the disease may result into destruction of certain body organs as a result of oxygen deficiency in the affected tissues. Cell cells have relatively shorter life span compared to normal red blood cells hence low red blood cell counts (anemia). As a matter of fact, sickle cells have a life span of averagely 15 days compared to normal red blood cells 120 days (Smith et al 94).

Sickle cell result from replacement of valine by glutamic acid. This occurs at position six of beta globine. The resultant effect is a change in valine’s structure. These changes are occasioned by mutation that takes place on a single nucleotide otherwise called single nucleotide polymorphism. This takes place in the beta globin gene. Hemoglobin S where glutamate has been converted to valine is known as HbS as opposed to HbA- normal adult hemoglobin. However this mutation is normally regarded as benign because it has no bearing on the three structures of hemoglobin when there is sufficient oxygen. In low oxygen concentration, the HbS get polymerized.

Diagnosis of sickle cell disease

It’s normally diagnosed at birth by the routine screening tests new born babies are normally subjected to. Hemoglobin electrophoresis is normally done when a child test positive in the screening tests. This is some sort of a confirmatory test. Early diagnosis and treatment of the condition is recommended to contain risks of infections.

Signs and symptoms

The signs of sickle cell disease vary from one patient to another. For example, they can either be mild or severe. In children, severity may vary depending on whether they have inherited sickle cell gene from one of the parent and an abnormal gene from another parent. Children with sickle cell disease do suffer from a certain degree of anemia. Some of these symptoms are normally exhibited. Acute chest syndrome: it is characterized by infection and blockage of the smaller blood vessels by the sickle cells hence a feeling of chest pain, constant coughs, problems with breathing, and increase in body temperature. Aplastic dilemma: is characterized by temporary slowdown of in the ability of the bone marrows to produce red blood cells after an infection hence low red blood cell counts and anemia. Victims normally have a general feeling of fatigue and increased pulse rate and signs of paleness. Dactylitis: is characterized by swelling of the hands and feet. Most infants show this as the first sign of sickle cell anemia (Smith et al 94). Children with sickle cell disease are at a greater risk of being infected with bacteria. Fevers which raise body temperatures to 38 degree Celsius may be a manifestation of a bacterial infection. Exposure to cold or dehydration brings a regime of painful crises whose time length varies from a couple of hours to even protracted periods of time. Other symptoms include spleen enlargement due to abnormal red blood cells sequestration hence a drop in red blood cell counts. The victim therefore becomes pale, weak and fatigued with incessant pain in the abdomen (Gladwin, Sachdev & Jison 886). When blood flow to the brain is stopped due to the blockage of blood vessels that nourish the brain, stroke may result. Signs of stroke include:

  • Headache
  • Limbs weakness
  • Speech difficulty
  • Loss of consciousness

Sickle cell disease treatment

Major intervention into SCD treatment has been bone marrow transplant (Almeida & Irene 483). However, because of complexity and risks involved into its undertaking, it is recommended for a select group of patients. The individual has to obtain bone marrow or stem cells from another party who has matching characteristics. This decreases the probability of rejection. Even with the matched donor there have been many cases of rejection. Medicines have been invented that help in minimizing pains. Immunizations and penicillin doses have also been used in containing spread of bacterial infections. Apart from penicillin, amoxicillin has also been used in curbing bacterial infections in children suffering from sickle cell disease. Children are normally given two doses of penicillin until they attain the age of five (Walters, Mark, Melinda & Leisenring 369). Children suffering from acute chest syndrome are normally subjected to regular red blood cell transfusions.

Conclusion

Studies have it that the malaria prevalence in the sub-Saharan Africa, the Mediterranean regions and the Middle East may be the main reason why sickle cell disease is common in these regions. Researches should explicitly be done to prove the truth behind such assumptions.

Works Cited

Almeida, Anton and Roberts Irene. “Bone involvement in sickle cell disease.” Br. J. Haematol. 129.4 (2005): 482–90.Print.

Desai, Dominic and Dhanani, Hiren. “Sickle Cell Disease: History and Origin.” The Internet Journal of Hematology 12 (2004).Print.

Gladwin, Mark, Sachdev, Vandana and Jison, Maria. “Pulmonary Hypertension as a risk factor for death in patients with sickle cell disease.” N. Engl. J. Med. 350.9 (2004): 886-95. Print.

Smith, Wally, Penberthy, Lynne and Bovbjerg, Viktor. “Daily assessment of pain in adults with sickle cell disease.” Ann. Intern. Med. 148.2 (2008): 94–101.Print.

Walters, Mark, Patience, Melinda and Leisenring, Wendy. “Bone marrow transplantation for sickle cell disease.” N. Engl. J. Med. 335.6 (1996): 369–76.Print.

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