This document discusses sickle cell syndromes, which are structural hemoglobinopathies caused by mutations that alter the amino acid sequence of a globin chain. There are several types of sickle cell syndromes, including sickle cell trait, sickle cell anemia, and combinations with thalassemia. Sickle cell disease occurs due to an autosomal recessive gene being inherited from both parents. Clinical manifestations include anemia, jaundice, gallstones, pain crises, acute chest syndrome, and organ damage, due to hemolysis and microvascular occlusion of red blood cells that have sickled. Management involves treatment of acute painful crises and chest syndrome with hydration, analgesics, oxygen, and blood transf

1. SICKLE CELL
SYNDROMES
Brajesh Lahri
Final Professional MBBS
All India Institute of Medical Sciences
(AIIMS).Bhopal

2. INTRODUCTION
• Sickle Cell Syndromes are structural
haemoglobinopathies
• Mutations alter the amino acid sequence
of a globin chain (i.e. sixth amino acid
Glutamate  Valine)
• Cause alteration in physiological
properties of variant haemoglobin and
produce characteristic clinical
abnormalities

3. TYPES OF SICKLE CELL SYNDROMES
• Sickle Cell Trait
• Sickle Cell Anaemia
• S/ß0 Thalassemia
• S/ß+ Thalassemia
• Haemoglobin SC

4. EPIDEMIOLOGY OF SICKLE CELL
DISEASE
http://www.nature.com/ncomms/journal/v1/n8/images/ncomms1104-f2.jpg

5. WHY DOES IT OCCUR ?
• Autosomal recessive
disease
• Occurs when mutated
gene is transferred to
the progeny from both
the parents

6. PATHOGENESIS OF SICKLE CELL
DISEASE
Normal Sickle cell Disease

7. CLINICAL MANIFESTATIONS OF
SICKLE CELL ANAEMIA
Clinical
Manifestations of
Sickle Cell
Anaemia
Due to Haemolysis
Anaemia ,
Jaundice and Gall
Stones
Due to
Microvascular
Occlusion
Stroke, Pain crisis,
Acute Chest
Syndrome, Hand-
foot Syndrome
Osteonecrosis ,
Occlusion of retinal
vessels, Priapism,
Chronic leg ulcers

8. PATHOGENESIS OF CLINICAL
MANIFESTATIONS-1

9. PATHOGENESIS OF CLINICAL
MANIFESTATIONS-2

10. MANAGEMENT
Management of
Acute Painful Crisis
Management of
Acute Chest
Syndrome
Management of
cases suffering
from severe
disease

11. MANAGEMENT OF ACUTE PAINFUL
CRISIS
• Vigorous hydration and thorough evaluation for underlying cause (such as
infection )
• Aggressive analgesia should be given
• Morphine- for severe pain.Dose: 0.1-0.15 mg/kg every 6-8 hr
• Ketorolac-for bone pain. Dose-30-60 mg initial dose then15-30 mg every 6-8
hr
• NO- can be used to provide short term pain relief
• Blood transfusion should be reserved for extreme cases

12. MANAGEMENT OF ACUTE CHEST
SYNDROME
• Medical emergency requiring management in ICU
• Continuous monitoring of hydration is essential to avoid development of
pulmonary edema
• Vigorous oxygen therapy for protection of arterial oxygen saturation
• Blood transfusion should be given to maintain a hematocrit of >30
• Emergency exchange transfusion if arterial saturation drops to <90%

13. MANAGEMENT OF CASES
SUFFERING FROM SEVERE DISEASE
• Use of Hydroxyurea
• Blood Transfusion
• Bone marrow Transplantation

14. HYDROXYUREA
• Mainstay of therapy for patients with severe symptoms
• Mechanism of Action :
Increases fetal hemoglobin(HbF).
Beneficial effects on RBC hydration and vascular wall adherence.
Suppression of the granulocytes and reticulocytes.
• Dose:10-30 mg/kg per day.

15. BLOOD TRANSFUSION
• Simple Transfusion:
Indications of simple transfusion-
 Splenic sequestration
 Aplastic crisis
 Acute chest syndrome
• Exchange Transfusion:
Indicated in children who have suffered from cerebrovascular accident , to
reduce the risk of stroke in future

16. ADDITIONAL PROPHYLACTIC
MEASURES
Children should be vaccinated against capsulated organisms like
pneumococcus, meningococcus , H.influenza-B, Hepatitis B and seasonal
influenza.
Regular slit lamp examination to monitor retinopathy.
Antibiotic prophylaxis for splenectomized patient during dental or invasive
procedures.
Vigorous oral hydration during periods of extreme exercise,exposure to hot
and cold,emotional stress or infection.