Sickle Cell Disease

Ibthaj Ur Rehman Khilji

Defining the disease

A point mutation in the beta globin gene, translating
into the sickling of hemoglobin
Point Mutation (A T) Glutamic acid Valine at
Position 6/7
A sickling mutation causing a decrease in production of
normal beta globin chains
Group of Syndromes;
Sickle Cell Anemia
Sickle beta thalassemia
Hemoglobin SC

Epidemiology
Occurs in endemic malarial areas sub-Saharan Africa, parts of India and the Middle
east
High carrier frequency among infants helps protect against malaria
Effects 90,000 people in America, mainly those of African-American decent
44/50 states provide universal neonatal screening for SCD

Clinical Manifestations
Newborns are usually asymptomatic (HbF has no beta globin 2 alpha & 2 gamma chains)
Hemolytic Anemia develops over 2-4 months as HbF is replaced
Splenic damage causes children to become functionally asplenic by the age of 5
FIRST PRESENT WITH HAND-FOOT syndrome (dactylitis)
Painful swelling of hands and feet symmetrically

Acute Painful Crisis

First Extremities with age moves to central body (head, chest, back, abdomen)

Vasooclusive crisis Ischemic damage

Splenic auto infarction
Strokes (age 6-9)
Priapism (adolescence)

Aplastic Crisis Parvovirus B19 Infection

Osteomyelitis Salmonella

List of Clinical
Manifestations

Lab Work
Increased reticulocytes
Mild to moderate anemia
Abnormal PFTs
Sickle RBCs
Normal MCV
Severe Anemia target cells,
poikilocytes, hypochromasia, HollyJolly bodies (lack of spleen)
Bone marrow markedly hyperplastic

Diagnosis

Prenatal diagnosis for parents with trait

Fetal blood hemoglobin separation
Amniotic Cells, Trophoblastic Cell DNA analysis

Newborn screening in suspected cases Hb

Electrophoresis (Gold Standard)

Prophylaxis
Educate guardians and patients about the various manifestations of SCD and home
remedies of clinical manifestations
Stay hydrated and NSAIDs for pain/inflammation

Immunizations Pneumococal (13 & 23), meningococcal, H. influenza type B are highly
recommended
Live attenuated vaccine for influenza is contraindicated

Penicillin's prophylaxis from 2months of age till 5 years

Folate supplements in diet
Monitor risk of Stroke with TRANSCRANIAL DOPPLER

Treatment

Aggressive antibiotic treatment for infections

Osteomyelitis and septic arthritis broad spectrum antibiotics IV

Transfusions as needed (splenic sequestrations or aplasia due to B19)

Administer Hydroxyurea increased HbF levels
Bone Marrow Transplant before the age of 16
Pain management as needed

Vasooclusive Episode Treatment

Acute, painful episodes are the most common reason for individuals with SCD to seek
medical attention
Pain can be associated with ischemia and tissue inflammation, includes Acute Chest
Syndrome, sickle cell crisis and dactylitis
Administration of Fluids and Opioids followed with potential precipitating condition
management.
At home oral fluids and NSAIDs with mild opiates (acetaminophen with codeine)
ED Analgesic Opioids and hydration with treatment of precipitating condition (infection?
Ischemia?)

Review
Presentation infant with symmetric hand-foot swelling, pain crisis family from sub-Saharan
Africa
Clinical Manifestations
Vasooclusive infarcts, strokes, hemolytic anemia, acute chest syndrome
Infections Aplastic crisis (B19), encapsulated bacteria (sepsis), osteomyelitis (salmonella)

Lab Values Hemolytic Anemia with increased reticulocytes

Asplenic patients will have

Diagnostic test Hb Electrophoresis

Treatment Hydroxyurea (increase HbF), blood transfusions and bone marrow transplant,
aggressive treatment of infections and Folate supplements
Pain Management and Stroke monitoring (Transcranial Doppler)
Opioid analgesics and fluids for hydration