Sickle Cell Anaemia

Mind Map by clairegillian95, updated more than 1 year ago
Created by clairegillian95 almost 6 years ago


First year Genetics & Society (Origin of Phenotype) Mind Map on Sickle Cell Anaemia, created by clairegillian95 on 04/01/2014.

Resource summary

Sickle Cell Anaemia
1 Phenotype first described by James Herrick
2 Symptoms
2.1 Fatigue, shortness of breath, paleness
2.2 Pain
2.3 Infections
2.4 Enlarged spleen
2.5 Sores that don't heal
2.6 Stroke
2.7 Eye problems
3 Red blood cells change their shape to squeeze through the smallest capillaries.
4 Sickled Cells can clump and block capillaries
5 Treatment for Sickle Cell Disease
5.1 Antibiotics taken daily
5.2 Pain management
5.3 Prevention of complications
5.4 Blood transfusions
6 If genes code proteins, then what is the defective protein in Sickle Cell Anaemia?
6.1 Hemoglobin
6.1.1 Made up of 2 alpha globins and 2 beta globins
6.1.2 Globins Long chains of amino acids
6.2 The gene that causes Sickle Cell Anaemia encodes beta-globin
6.2.1 The beta-globin gene is on chromosome 11
7 An autosomal recessive trait
8 How common is Sickle Cell Anaemia?
8.1 Sickle Cell Anaemia among Afro-Americans
8.1.1 ~1 in 400 are born with Sickle Cell Anaemia
8.1.2 1 in 10 are carriers
9 The sickle cell allele is associated with malaria
9.1 Malaria
9.1.1 300-500 million cases per year
9.1.2 1.5-2.7 million deaths per year
9.1.3 In Africa 1 million children (<5 years) die per year 2800 children die per day
9.1.4 Many died of malaria in WW2
9.1.5 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
9.1.6 Plasmodium Falciparum Causes malignant tertian malaria Fever and chills every 48 hours Responsible for 95% of malaria deaths worldwide
9.1.7 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
9.1.8 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
9.2 Heterozygotes are resistant to falciparum malaria
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Autosomal Dominant Traits
Tay Sachs Disease
Oculocutaneous Albinism
Dominant Traits
Pituitary Dwarfism
Mitosis & Meiosis
Genes, Alleles, & The Central Dogma
Population Genetics