SICKLE CELL DISEASE

SICKLE CELL DISEASEAgness Pratiwi030.11.010

DefinitionAn inherited form of anemia a condition in which there aren't enough healthy red blood cells to carry adequate oxygen throughout body.EtiologyA mutation in the gene that tells body to make hemoglobin. Normally : round and flexibleSCD : rigid and sticky like sickles or crescent moonsRisk factor:GeneticsFor a baby to be born with sickle cell anemia, both parents must carry a sickle cell gene.

5EpidemiologyThe most common inherited blood disorder in the United States, Africa, Saudi Arabia, India,Caribbean Island.More than 70,000 people in the United States have sickle cell diseaseOccurs in 1 in every 500 African AmericansAbout 8% of African Americans are carriers of SCDTwo million people have sickle cell traitApproximately 1 in 12 African Americans has sickle cell trait

PathologyHbS arises from a mutation substituting thymine for adenine in the sixth codon of the beta-chain gene, GAG to GTG.

The resulting Hb has the physical properties of forming polymers under deoxy conditions.

Under deoxy conditions, HbS undergoes marked decrease in solubility, increased viscosity, and polymer formation at concentrations exceeding 30 g/Dl

It forms a gel-like substance containing Hb crystals called tactoids.

When red blood cells (RBCs) containing homozygous HbS are exposed to deoxy conditions, the sickling process begins

SymptomathologyAnemiaEpisodes of painHand-foot syndromeFrequent infectionsDelayed growthVision problem8

DiagnosisComplete blood countHemoglobin electrophoresisSickle cell testBlood oxygen testTreatmentMedications : Antibiotics, Pain-relieving medications, Hydroxyurea (Droxia, Hydrea)Immunizations to prevent infectionsBlood transfusionsSupplemental oxygenStem cell transplantComplicationsStrokeAcute chest syndromePulmonary hypertensionOrgan damageBlindnessSkin ulcers

ConclusionSCD is an inherited form of anemia. SCD is caused by mutation in the gene to make hemoglobin. Diagnosis is confirmed by CBC,Hb electrophoresis, Blood oxygen test. Treatment of SCD are medications, Immunization, blood transfusions, supplemental O2, stem cell transplant

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