Sickle Cell Anaemia

Sickle Cell Anaemia

Phenotype first described by James Herrick
Symptoms
1. Fatigue, shortness of breath, paleness
2. Pain
3. Infections
4. Enlarged spleen
5. Sores that don't heal
6. Stroke
7. Eye problems
Red blood cells change their shape to squeeze through the smallest capillaries.
Sickled Cells can clump and block capillaries
Treatment for Sickle Cell Disease
1. Antibiotics taken daily
2. Pain management
3. Prevention of complications
4. Blood transfusions
If genes code proteins, then what is the defective protein in Sickle Cell Anaemia?
1. Hemoglobin
  1. Made up of 2 alpha globins and 2 beta globins
  2. Globins
    1. Long chains of amino acids
2. The gene that causes Sickle Cell Anaemia encodes beta-globin
  1. The beta-globin gene is on chromosome 11
An autosomal recessive trait
How common is Sickle Cell Anaemia?
1. Sickle Cell Anaemia among Afro-Americans
  1. ~1 in 400 are born with Sickle Cell Anaemia
  2. 1 in 10 are carriers
The sickle cell allele is associated with malaria
1. Malaria
  1. 300-500 million cases per year
  2. 1.5-2.7 million deaths per year
  3. In Africa
    1. 1 million children (<5 years) die per year
    2. 2800 children die per day
  4. Many died of malaria in WW2
  5. Clinical Symptoms
    1. Chills: intense cold feeling, shivering, nausea, vomiting
      1. 1/2 - 1 hour later, hot stage: high fever, mild delirium; can last for several hours
        Fever breaks: copious perspiration, temperature normal after 2-3 hours
  6. Plasmodium Falciparum
    1. Causes malignant tertian malaria
    2. Fever and chills every 48 hours
    3. Responsible for 95% of malaria deaths worldwide
  7. Malignant forms of falciparum malaria:
    1. Bilious remittant fever: nausea, jaundice, urine with bile pigment, high fever, vomiting
    2. Cerebral malaria: headache, very high fever, convulsions, coma, death can occur very quickly
    3. Algid malaria: skin cold and clammy, bloody vomiting, bloody stools
    4. Blackwater fever: massive lysis of RBCs, blood in urine, kidney failure
  8. Plasmodium
    1. Develops in the gut of the mosquito
      1. Migrates to the salivary glands of the mosquito
        Enters the human bloodstream when a mosquito feeds
        Invades RBCs
        Multiplies and destroys RBCs
        Invades new RBCs or liver cells
2. Heterozygotes are resistant to falciparum malaria

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	Creado por clairegillian95 hace más de 10 años