Genetic Diseases


Sickle Cell Disease

Introduction

Sickle Cell DiseaseSickle cell is a genetically transmitted disorder. It causes life-long blood syndromes because of defects in hemoglobin. It is a widespread disease and as per the latest statistics, sickle cell disease is found in one out of every 500 new born babies amongst African-Americans. The disorder is marked by abnormal sickle shaped red blood cells. This in turn adversely affects flexibility in the cells leading to several health complications.

Types and Cause

There are chiefly four kinds of sickling of cells. They are Sickle Cell Anemia (SS), Sickle-Hemoglobin C Disease (SC), Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia. Sickle cell disease is caused chiefly due to a form of mutation in the genes that had apparently originated in places where malarial was a common disease. It is purely genetically transferred from parents to the children.

Symptoms

Sickle cell is associated with an array of complications that is laced with the disease. It does show a series of symptoms and thus such conditions must not be ignored. The common symptoms are as follows:

  • Pain-It is a common symptom. The condition includes sudden pain in different parts of the body like chest, legs and arms. It also causes inflammation in toes and fingers-this is mostly found amongst infants. Also sickling causes pain in penis.
  • Anemia- Anemia is the most common symptom of the disease. In this case the red-blood cells produced are disfigured and are sickle shaped. This results in dehydration and fever. The cells turn stiff; the number of red blood cells reduces leading to anemia.
  • Chest disease- Acute chest syndrome is a symptomatic condition associated with sickle cell disease. The disorder occurs due to sickling of cells in the chest mainly when the body is suffering from any kind of infection or dehydration.
  • Pooling in the spleen- It occurs due to cells sickling in the spleen. This mainly takes place due to drastic fall in hemoglobin level and can have dangerous consequences. The spleen gradually gets damaged. The condition aggravates risks of severe infection especially in infants.
  • Skin disorder- it includes jaundice, yellowing of mouth, eyes and other parts of the skin. They are caused because the red-blood cells die out and this eventually harms every part of the body.
  • Stroke- Sickling blocks blood vessels which lead to stroke. A person attacked by stroke once is like to experience stroke again. This worsens the situation and thus calls for immediate treatment.

Diagnosis

Sickle cell disease is a potential threat to an individual suffering from the syndrome. Once diagnosed, immediate medication is the only way the disease can be dealt with. There are few basic diagnostic procedures to identify the disease. They are as under:

  • Thorough study of medical history and physical examination analysis
  • Blood test include DNA test
  • Screening of new born babies and through assessment of symptoms if traced.
  • Hemoglobin electrophoresis to identify if the diagnosed if a carrier of the sickle cell disease

Treatment

Sickle cell disease is a disorder that can get severe if not treated the moment it has been diagnosed. However, it is always advisable to discuss with the doctor few issues in order to avoid any kind of confusion during the course of the treatment. Those issues are:

  • Magnitude of the disease and its spread
  • Age, health status
  • Immunity for medication and therapies
  • Your personal comfort

The above issues if sorted out, the entire procedure associated with the treatment runs smooth and a background study helps the doctor to assess your health better based on which he treats you. Early diagnosis is the best way to prevent intensification of sickle cell disorder. Treatment includes the following medication options:

  • Medication to treat sudden pains in unusual parts of the body
  • Constant intake of fluid to prevent dehydration
  • Blood transfusion; it is a serious treatment and is selectively applicable on patients
  • Penicillin doses to stop the spread of any kind of infection
  • Prevention of acute anemia through folic acid
  • Bone marrow transplant; it is an effective treatment only if a suitable bon marrow donor can be found

It can be understood that sickle cell is such a disease that has affected millions of individuals through out the world including a considerable infant-population. The situation is undoubtedly grim and improvisation of treatment is the only solution to the problem. Early diagnosis can also save a patient from a lot of pain and complications. Thus one needs to be aware of the nitty gritty of the disease in order to be able to identify the symptoms and discomforts associated with the disorder.

Sickle cell disease is not only limited to the evils of the disease. It leads to a series of severe health consequences that totally damages the immune system and eventually can even turn fatal. Thus, it is a disease that needs immediate attention and appropriate and timely treatment.

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