Sickle Cell

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Sickle Cell

• Ben Freedman

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Sickle Cell Disease

• Related to Sickle Cell Anemia or Sickle Cell
  Disorder
• There are several types of Sickle cell including
  Sickle- Hemoglobin (SS), Sickle- Beta- Plus
  Thalassemia, and Sickle Beta Zero Thalassemia.

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Mode of Inheritance

• Sickle cell disease is inherited through genes.
• Chromosome number 11
• Inherited Autosomal- recessively
• Sickle cell anemia is inherited in 25 of all
  crosses between two carriers (Ss), 0 between any
  other genotypes.

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Punnett Square
A cross showing the only way to inherit sickle
cell disease a cross between two carriers.

• S dominant, normal
• s recessive, sickle cell

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Symptoms of Sickle Cell Disorder

• Sickle shaped blood cells instead of the normal
  disc shaped ones.
• They get stuck in the arteries or veins, and
  prevent normal blood flow.

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Detection

• The disease is diagnosed after simple blood test
  done on all infants at birth.

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Diagnostic Testing

• Hemoglobin electrophoresis- passes an electric
  current through blood and determines the make up
  of the blood.

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Prognosis

• Survival rates Severe and most common form at
  age 18- 85.6
• Midler forms at age 18- 97.4
• Treatable with a daily dose of penicillin (to
  prevent deadly infections), and folic acid (to
  help build red blood cells).

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Additional Health Problems

• Sickle cells rapidly destroyed in body people
  causes anemia, jaundice, and gallstones.
• Sickle cells also block blood flow through
  vessels or arteries- tissue damage ,pain
  episodes, stroke, damage to organs (the spleen,
  kidneys and liver). Damage to spleen- overwhelmed
  by certain bacterial infections

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Treatment

• Diagnosis in newborn period
• Penicillin, folic acid supplementation, anti-
  biotics.
• Surgery, blood transfusion, combined with
  psychosocial therapy.

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Current Research

• Searching for a substance that can prevent red
  blood cells from sickling without causing harm to
  other parts of the body.
• Droxia- form of hydroxyurea- found to reduce
  symptoms of sickle cell without causing damage to
  other body parts.

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Genetic Counseling

• Usually meets when both parents are carriers
  before birth of child
• Recommends sources and gives basic information
  about sickle cell disease.

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Graphics
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Interesting Facts

• 1 in 500 African Americans have Sickle Cell
  disease.
• Also found in Indian, Caribbean, Middle Eastern,
  and Mediterranean people.
• Only possible when two carriers of the disease
  are crossed.

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Credits

• http//learn.genetics.utah.edu/units/disorders/wha
  taregd/
• http//Noah- health.org/en/gentic/sicklecellbasics
  
• http//www.genome.gov/10001200
• Aip.org