1. Anamnesis

- Keluhan utama?- Sejak kapan?- Pengobatan?- Riwayat pertumbuhan?- Riwayat keluarga?- Riwayat penyakit keturunan?

2. Pemeriksaan

A) Fisik = General= Organ-organ dalaman

B) Penunjang = Laboratory Studies ( CBC, HB electrophoresis)= Imaging Studies ( Radiography)

3. Diagnosis Diferensial

A) Sickle Cell Disease = autosomal recessive (HBSS) = sel darah merah sickle = Hemoglobin level is 5-9 g/dL = kawasan malaria = bangsa afrika

B) Thalassemia= autosomal recessive= Tipe α - gen HBA1 & HBA2= Tipe β - gen HBB= Non/Mediterranian

4. Gejala Klinis

- Asymtomatic- Tingkat anemia

(ringan, sedang berat)

- Vaso-occlusice crisis (CSD) = nyeri yang recurrent

- Hepatosplenomegaly (Thalasemia)

5. Etiologi

CSD = point mutation chromosome 11pThalasemia = gen HBA1, HBA2, HBB

6. Patofisiologi

A) Sickle Cell Disease

B) Thalasemia

9) Komplikasi

SCD = Stroke= Osteomyelitis

Thalasemia = Iron overload

9) Penatalaksanaan

SCD a) Medika mentosa = Antimetabolite ( Hydroxyurea)= Analgesics opioid / nonsteroidal= vitamin (folic acid)=iron chelating (Deferasirox)b) Non-medika mentosa= Tranfusion = Erythrocytapheresis

Thalasemia

a) Medika mentosa = Iron Chelating (Defasirox)

b) Non-medika mentosa = Tranfusion= Splenectomy= Cholecystectomy

10)Preventif

-Genetic Counselling -Prenatal Diagnosis-Carrier Testing-Newborn Screening

Prognosis

= Tergantung kepada kerusakan gen dialami

= Bisa fatal

= Bisa carier (asimtopmatik)

= Rujukan