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704719
Sickle Cell Anaemia
Description
First year Genetics & Society (Origin of Phenotype) Mind Map on Sickle Cell Anaemia, created by clairegillian95 on 01/04/2014.
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genetics & society
origin of phenotype
genetics & society
origin of phenotype
first year
Mind Map by
clairegillian95
, updated more than 1 year ago
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Created by
clairegillian95
over 10 years ago
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Resource summary
Sickle Cell Anaemia
Phenotype first described by James Herrick
Symptoms
Fatigue, shortness of breath, paleness
Pain
Infections
Enlarged spleen
Sores that don't heal
Stroke
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
Antibiotics taken daily
Pain management
Prevention of complications
Blood transfusions
If genes code proteins, then what is the defective protein in Sickle Cell Anaemia?
Hemoglobin
Made up of 2 alpha globins and 2 beta globins
Globins
Long chains of amino acids
The gene that causes Sickle Cell Anaemia encodes beta-globin
The beta-globin gene is on chromosome 11
An autosomal recessive trait
How common is Sickle Cell Anaemia?
Sickle Cell Anaemia among Afro-Americans
~1 in 400 are born with Sickle Cell Anaemia
1 in 10 are carriers
The sickle cell allele is associated with malaria
Malaria
300-500 million cases per year
1.5-2.7 million deaths per year
In Africa
1 million children (<5 years) die per year
2800 children die per day
Many died of malaria in WW2
Clinical Symptoms
Chills: intense cold feeling, shivering, nausea, vomiting
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
Plasmodium Falciparum
Causes malignant tertian malaria
Fever and chills every 48 hours
Responsible for 95% of malaria deaths worldwide
Malignant forms of falciparum malaria:
Bilious remittant fever: nausea, jaundice, urine with bile pigment, high fever, vomiting
Cerebral malaria: headache, very high fever, convulsions, coma, death can occur very quickly
Algid malaria: skin cold and clammy, bloody vomiting, bloody stools
Blackwater fever: massive lysis of RBCs, blood in urine, kidney failure
Plasmodium
Develops in the gut of the mosquito
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
Heterozygotes are resistant to falciparum malaria
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