Alpha thalassemia is a genetic blood disorder characterized by reduced hemoglobin production, leading to anemia. It is caused by mutations or deletions in the alpha globin genes, classified into four types: silent carriers, alpha thalassemia trait, Hb H disease, and hydrops fetalis, each with varying clinical manifestations and severity. Diagnosis involves blood tests and genetic analysis, while treatment options depend on the type of thalassemia, with severe cases requiring more intensive medical interventions.

2. ALPHATHALASSEMIA
HAFIZ M WASEEM UNIVERSITY OF
EDUCATION LAHORE

4. CONTENTS
 Alpha Thalassemia
 Causes of Alpha Thalassemia
 Discovery
 Classification of Alpha Thalassemia
 Silent Carriers
 Alpha Thalassemia Trait
 Hb H Disease
 Hydrops Fetalis
 Clinical features
 Treatment
 Conclusion
 References

5. ALPHATHALASSEMIA
 Alpha Thalassemia is a blood disorder that
reduces the production of hemoglobin.
 Hemoglobin is the iron rich protein in red blood
cells that carries oxygen to cells throughout the
body.
 It is the deficiency in the synthesis of alpha
globin chain.
 Beta globin chains are not affected and are
produced at a normal rate .
 It causes the shortage of red blood cells that
causes anemia.

8. Causes OfAlpha Thalassemia
 It is caused by defective formation of alpha
chain.The latter is controlled by two genes present
on chromosome No:16.
 It is caused by either mutation or deletion in gene
fragments.

9. DISCOVERY
 Thalassemia major is widely referred to
as Cooley's anemia in reference to
Dr. Thomas Benton Cooley, the renowned
researcher who discovered the disorder.

10. Classification ofAlpha Thalassemia

11. Classification ofAlpha Thalassemia
1-Silent Carrier
• Missing only one functional gene and other three
genes are normal
• Asymptomatic
• Being a silent carrier means you don’t have signs
of the disease, but you can pass the damaged gene
on to your child. This is confirmed by DNA tests.

12. Conti…
2-Alpha Thalassemia Trait
• Two alpha genes are missing.
• This is alpha Thalassemia minor.
• Most common in South East Asia,West Africa and
also occur in about 2% of African-America.
• Asymptomatic
• This is mild form of anaemia and it is not fatal.

13. Conti…
3-Hb H disease
• Also called “Alpha Thalassemia Major.”
• It is Proper Alpha Thalassemia.
• 3 out of 4 alpha globin genes are missing
• It may have moderate to severe anemia.
• Patient with this anemia will have from 5-40% of
HbH in their blood

14. Conti…
4-Hydrops Fetalis
• Also called ‘’Hb bart syndrome.’’
• There is complete deletion of alpha genes,so HbA
and HbF are completely missing.
• This is a lethal and dangerous condition.
• This is a condition in which excess fluid builds up
in the body before birth.
• Most severe form of alpha thalassemia.
• Condition is incompatible with life, majority of
these babies are born prematurely as a stillbirth,
or leads to death after birth

17. Diagnosis
This disease can be diagnosed by:
 Measuring red blood cell (RBC) indices
 Examining a peripheral blood film
 Detecting RBC inclusion bodies, and qualitative
and quantitative haemoglobin analysis.
Haemoglobin electrophoresis show a decreased
level of alpha globin.
 DNA testing be also useful in confirming the
diagnosis.

18. Clinical Features
Infants that survive untill birth exhibit significant
physical changes upon routine exam
The babies are:
 Underweight
 Jaundice
 Anaemia
 Weakness
 Pale or yellowish skin
 Fatigue
 Slow growth
 Abdominal swelling
 Hepatosplenomegaly
 Dark urine
 Facial bone deformities

20. Treatment
 Trait/silent carrier disease don’t required any sort
of treatment
 Blood transfusion
 Folic acid may be used to treat anaemia
 Splenectomy
 Bone marrow transplants for Hb H disease
 There is no treatment of Hb bart syndrome
because this disease is not life friendly and most
complicated.It is the most severe type of
thalassemia

21. CONCLUSION
 Alpha Thalassemia is a blood disorder that is
passed down from one or both parents through
their genes.When you have thalassemia, your
body makes less hemoglobin than normal.
 This disease causes health problems and
requires treatment by a physician.Missing four
genes (Hydrops fetalis) this is a life
threatening disease.

22. REFERENCES
 Higgs DR, Weatherall DJ. The alpha
thalassaemias. Cell Mol Life Sci. 2009
Apr;66(7):1154-62. doi: 10.1007/s00018-008-
8529-9. Review. Citation on PubMed
 Global Burden of Disease Study 2013,
Collaborators (22 August 2015). "Global,
regional, and national incidence.
 WWW.googlescholar.com