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Sickle cell anemia, Genetic cause (Direct transmission (Mutation of a gene…
Sickle cell anemia
Genetic cause
Direct transmission
Mutation of a gene controlling hemoglobin production causes red blood cells to have spikes
If one parent is a carrier and one is not, then 50% chance their child will be a carrier & 50% chance their child will not inherit the gene at all
Upstream effects
Infant; Prior diagnosis of circulatory problems & anemia; Has sickle cells; Family history of sickle cell disease
Background
Blood
Plasma (55%)
Proteins
Salts
Gases
Waste
Nurtrients
Water
Hormones, vitamins, etc.
Formed elements (45%)
Leukocytes
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Erythrocytes
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Thrombocytes
Disorders
Hemostasis
Clotting ability is impaired
Anemia
Red blood cells do not carry adequate oxygen
Leukemia
Cancer of white blood cells in which they divide too rapidly and red blood cell production decreases
Blood typing
Type (surface antigen present)
AB
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A
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B
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O
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Rhesus (Rh) factor
Present
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Not present
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Hematopoiesis
Stem cell
Common lymphoid progenator
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Common myeloid progenator
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Hemostasis
Injury
Vascular spasm
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Intrinsic
Factor 12
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Extrensic
Factor 3
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Downstream effects
Mother and father must both pass a copy of the mutated gene in order for their child to express sickle cell anemia
Given that the mother states she has a family history of sickle cell and that her child has sickle cell expression, she must, at a minimum, be a carrier and her partner must either be a carrier or have sickle cell expression
Sickle shaped red blood cells can clump
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If both parents are carriers, then 25% chance their child will have sickle cell expression & 50% chance their child will be a carrier
If both parents have sickle cell expression, their child will have sickle cell expression
If one parent is a carrier and one has sickle cell expression, then 50% chance their child will have sickle cell expression & 50 % chance their child will be a carrier
Sources: Fundamentals of Anatomy & Physiology, 11th Edition (class text);
https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/multimedia/sickle-cell-anemia/img-20006931
;
https://rarediseases.info.nih.gov/diseases/8614/sickle-cell-anemia