sickle cell anemia

Sickle cell anemia

Affects the shape of red bloods

Africa

Sickle cell anemia rose from what country?

Dr. James Herrick (1910)

Who was the first doctor to describe sickle cell disease

Walter Clement Noel

First patient to show cresent shaped blood cells

Delayed growth, anemia, pale skin/jaundice, swelling of hands and feet, frequent infection

Symptoms of sickle cell disease

Stroke, pulmonary hypertension, organ damage, blindness, pregnancy complications

Complications of sickle cell anemia

1927

Link between lack of blood oxygen and sickling of red blood cells was identified

1949

Linus Pauling and colleagues discovered that a genetic mutation was responsible for the disease

Sickle cell disease

Caused by defective hemoglobin in RBC

Autosomal recessive gene

What kind of autosomal gene is sickle cell disease

Hemoglobin S

What replaces or coexists with normal hemoglobin A?

2

How many mutated gene is needed in order to get sickle cell disease?

Missense

What kind of mutation is sickle cell disease?

6th amino acid

What amino acid does the mutation occur?

Valine

What replaces glutamate in the beta-globin chain?

Hemoglobin S

The altered beta-globin chain produces what?

Deoxygenation

What is needed in order for HbS to turn into sickle shaped blood cells?

3 to 6 months

Symptoms of sickle cell start at what age?

Decreased hemoglobin levels

Why does the symptoms start at an early age?

Temperature, dehydration, socio-economic status

Environmental factors related to sickle cell anemia

Point mutation

Sickle cell disease is caused by what?

Chromosome 11

What chromosome is affected in sickle cell disease?

Proline, valine, glutamic acid

What is the mutated amino acid of sickle cell?

100%

An affected man and affected women would have a percentage of what?

25%

If both parents have sickle cell trait what are the chances of them producing an unaffected child?

50%

If both parents have sickle cell trait what are the chances of them producing a carrier child?

25%

If both parents have sickle cell trait what are the chances of them producing an affected child?

Malaria

Carriers of sickle cell trait have resistance to what disease?

50%

When one parent has the sickle cell trait, what are the chances of an unaffected child?

50%

When one parent has the sickle cell trait, what are the chances of a carrier child?

50%

When one parent is a carrier and the other is affected, what are the chances of a carrier child?

0

When one parent is a carrier and the other is affected, what are the chances of a normal child?

50%

When one parent is a carrier and the other is affected, what are the chances of an affected child?

Enlarged spleen or liver

A physical examination checks for what?

Blood test

Diagnostic test to check for sickle-shaped cells

Hemoglobin electrophoresis

Diagnostic test used to confirm HbS presence

Genetic test

Diagnostic test to check for mutation

Hydroxyurea

Reduces the frequency of pain crises and reduce the need for blood transfusions

Infection

Hydroxyurea increases the risk of what?

Voxelotor

Treatment for children age 4 and older and helps prevent the red blood cells from becoming sickled

L-glutamine oral powder

Helps reduce pain

Crizanlizumab

Injection for adults and children order than 16 years

Blood transfusion

Increase healthy red blood cells

Bone marrow or stem cell transplant

Replaces the patient’s bone marrow with a healthy donor that is usually a sibling or family member

Antibiotics

Prevents serious infection