presented by HAFIZ M WASEEM university of education LAHORE Pakistan i am from mailsi vehari and studied in lahore bsc in science college multan msc from lahore

1. UNIVERSITY OF EDUCATION,
LMC

2. Hematology
Topic :
Haemoglobinopathies

3. HAFIZ M WASEEM UNIVERSITY OF
EDUCATION LAHORE

4. Contents
 Introduction
 Basic categories
 Hemoglobin
 Structure, function, location
 Alpha Beta chains
 Sickle cell diseases
 Thalesemia
 Conclusion

5. Introduction
These are the Hereditary Diseases defined as,
“A medical term which is used to explain the blood group disorders and the
diseases that affect Red blood cell’s.”

6. Basic Categories
 Hemaglobinopathies fall into 2 Broad categories.
 Sickle cell diseases(Drepanocytosis)
 Thalassemias

7. Haemoglobin
 It is a Heme Protein
 It’s primary function is Transport of Oxygen.
 There are Two types of Protein( Globular and Linear)
 Globular(Functional Proteins)
 Linear (Structural proteins)
 Hemaglobin consists of Globular Proteins.

8. HEMAGLOBIN=HEME +GLOBIN PROTEINS

9. Location and Structure of Hemoglobin
 Human hemaglobin is a Tetramer Protein molecule composed of Four units.
 Two Alpha chains
 Two beta chains
 Each chain consists of a Prosthetic group
 The prosthetic group is named as (Heme).

10. Alpha and Beta Chains

11. Sickle Cell diseases
 Mutations on the Beta Globin coding Gene present on the Chromosome
number 11 is responsible for this Disease.
 It includes substitution of Glutamic acid with Valine.

12. Sickle cell disease

13. Inherited Autosomal Recessive
Disorder

14. Pathophysiology
 The red blood cell’s of Homozygous persons(Hb S/S) consists of HbS
 HbS has the property of polymerizing when is deoxygenated, that results in the
formation of fibres that distort the red blood cells and they become sickle
shaped.


15. Symptoms, Diagnosis, Treatments
It’s symptoms may include,
i. Hypoxia
ii. Cold
iii. Dehydration
iv. Frequent infections
v. Poor vision
vi. Delayed growth or puberty

16. Symptoms, Diagnosis, Treatments
Diagnosis of sickle cell disease :
 The diagnosis is made on,
 Blood smear and the shape of RC
 Electrophoresis of Hemaglobin
 Genetic tests
Treatment :
✔ There is no cure for this genetic disease.
✔ Except the transplantation of hematopoetic stem cell’s.

17. Thalesemia
 It is a Inherited Autosomal Recessive Disorder.
 Characterised by failure to produce Hemaglobin.
✔ It leads to the death of 50,000 to 100000 people every year

18. Causes of Thalesemia
 The main causes of Thalesemia are as follows,
 Mutations in Gene that make hemaglobin.
 These Mutations pass from parent to offspring.

19. Types of Thalesemia
 There are two primary types of Thalesemia.
 ALPHA THALESEMIA
 BETA THALESEMIA
 We know that hemaglobin consists of 2 chains (Alpha and beta).
 So, type of thalesemia depends on whether the mutation is in Alpha or beta
chain.

21. Symptoms, Diagnosis, Treatments
It includes,
 Pallar
 Irritability
 Hepatomegaly
 Jaundice and
 Developmental delay
Other complications
 Metabolic and endocrine disorders
 Many cardiac complications etc.

22. Symptoms, Diagnosis, Treatments
Diagnosis :
 The diagnostic measures includes,
 Clinical suspicion
 Blood smear
 Electrophoresis of hemaglobin
Treatment :
 It includes,
 Blood transfusion
 Splenectomy
 Folic acid
 Iron chelator

23. Conclusions
 Hemoglobinopathies are a public health issue in today's multiethnic German population.
Adequate care of the affected patients requires a wide variety of diagnostic and therapeutic
measures.U