Sickle Cell Anaemia
What is Sickle cell anaemia?
• "Sickle cell disorders" is a condition where the shape of the red cell changes to sickle shape due to a change in Hemoglobin S gene ( beta globin gene)
• "Sickle cell disease (SCD)" is an umbrella term that includes all variety of sikcel cell disease with changes in beta globin chain
What are the types of sickle cell Anemia?
How Sickle cell trait is diagnosed
HbA >50 percent
HbS > 35 to 45 percent, and
HbF <2 percent.
HbS <35 percent suggests the presence of alpha thalassemia.
•Sickle cell anemia – HbSS
HbA - 0 percent,
HbF <2 percent,
Normal amounts of HbA2, and the remainder HbS.
•Hemoglobin SC disease – HbS and HbC are both present.
•Sickle cell-beta+-thalassemia –
HbA - 5 to 30 percent,
HbA2- increased,
With the remainder HbS.
•Sickle cell-beta0-thalassemia –
HbA - 0 percent,
Along with variable amounts of HbF,
Increased HbA2,
With the remainder HbS.
How do you diagnose
Diagnosis is done with help of
1. clinical history
2. complete blood picture
3. liver function test
4. ultrasonography of abdomen
5. Hb electrophoresis
How the patient present to a doctor
Patients present to the doctor with acute and chronic complications
Acute complications — these are the common and major issue for patients
- Patient will have high grade fevers – because of Infections
- Patient RBC will break down based on severity of sickle cell disease - Severe anaemia
- Vaso-occlusive phenomena – Due to abnormal shape of RBC, the cells block the blood vessels
- which can result is severe pain in bones, chest, etc
- can result in brain Stroke
- can result in severe - chest pain, shortness of breath
- can result in renal failure
- can result in severe bone pain in fingers
- can result in heart attack - Myocardial infarction – heart failure
- can result in pregnancy complications
- can result in severe painful condition of penis
- can result in lower limbs swelling (DVT), which may lead to pulmonary thromboembolism (PTE)
Chronic complications — on long term, SCD can effect all major organs, SCD can
• cause chronic severe Pain
• result in chronic Anemia because of continuous haemolysis
• result in paralysis of limbs or fits - Neurologic deficits or seizure disorder
• result in pulmonary hypertension - Pulmonary complications
• result in chronic renal failure and hypertension
• result in Osteoporosis and complications of bone infarction
• result in heart failure
• result in liver failure due iron overload or drug toxicity
• Result in gall stones pain
• result in Delayed puberty and reduced growth
• result in chronic leg ulcers
• result in eye complications - Proliferative retinopathy
Common triggers for pain
1. cold temperature,
2. dehydration,
3. overexertion,
4. hormonal changes such as onset of menses, and
5. respiratory exposures (tobacco smoke, wind, air pollution, asthma exacerbation)
The major options for reducing or minimizing vaso-occlusive pain include the following:
Hydroxyurea
Preferred initial therapy for all children and adults with HbSS or HbS-beta0-thalassemia.
Who cannot take the medication?
Women who are pregnant or individuals who are attempting conception (males or females)
What precautions should be taken with hydroxyurea?
Watch for drop in blood counts
What has to be done if patient develops painful episodes on hydroxyurea?
Blood Transfusions – Transfusions are not used routinely to prevent pain. However, selected individuals with frequent acute pain episodes despite disease-modifying therapy such as hydroxyurea, chronic pain, or both, may benefit from a six-month period of regular blood transfusion therapy to keep the haemoglobin S concentration less than 50 percent or even 30 percent
Newer Medications
L-glutamine (pharmaceutical grade)
Who should take the medication?
Patient not responding to hydroxyurea, it can be combine with hydroxyurea or can be taken separately
Voxelotor
Who can take the medication?
is an option for individuals age ≥12 years who continue to have vaso-occlusive pain episodes despite appropriately dosed hydroxyurea or who cannot tolerate hydroxyurea for any reason
Crizanlizumab
Who can take the medication?
For individuals ≥16 years with SCD who have acute vaso-occlusive pain episodes unresponsive to hydroxyurea, L-glutamine, or both
Can we cure SCD permanently?
Yes
Doing bone marrow transplants at appropriate age and fitness levels, we can cure SCD
Dr. T. Narender Kumar
Consultant Medical & Hemato Oncologist and BMT Physician
KIMS Hospitals, Secunderabad.