Beta thalassemia is a genetic blood disorder that results in reduced or absent beta globin chains, causing anemia. It is endemic in Azerbaijan, where 10% of the population are carriers and it is the 4th highest country in terms of prevalence. The most common beta thalassemia mutations in Azerbaijan are Codon 8-AA, IVS2-1, and IVS1-110. While historically fatal, diagnosis and treatment have improved in recent years due to a specialized thalassemia center providing free care and increased screening and awareness programs. The high rates are believed to have evolved from a heterozygous advantage in protecting against past endemic malaria.

1. Beta Thalassemia in
Azerbaijan
ILKIN BAKIRLI
SOCIAL MEDICINE PRESENTATION
30.5.2018

2. Introduction
Thalassemia involves decreased production of
normal adult hemoglobin (Hb A)
The globin part of Hb A has 4 protein
sections called polypeptide chains.
The chains are in pairs and are designated the
alpha chains and beta chains.
In persons with beta thalassemia, there is reduced
or absent production of beta globin chains.

3. Types of Thalassemias
 There are two types; Alpha and Beta thalassemias
 Beta thalassemia is endemic to Azerbaijan
 There are three forms of beta thalassemias;
1. Thalassemia minor: one gene is missing. The person is said to be
heterozygous for beta thalassemia.
2. Thalassemia intermedia: It develops because of alterations in both beta
globin genes.
3. Thalassemia major: It develops when both beta globin genes are missing.
The child is homozygous for beta thalassemia.

4. Inheritance routes and genes
1. Customary consanguineous marriages in southern and northern regions
of Azerbaijan accounts for 15% increase in affected births
2. Recent studies reported 22 mutations of β-thalassemia in Azerbaijan, and
it was found that the most common mutations among the Azerbaijani
population are;
- Codon 8-AA
- IVS2-1
- IVS1-110
The gene is autosomal recessive and needs both parents to carry the
gene.

6. Frequency
 Globally, it is estimated that there are 80 million carriers of β-thalassemia.
23,000 babies are born with β-thalassemia major annually
 Azerbaijan has a population of 9,923,000 people (2018)
 10% (>1million) of the population are carriers of the thalassemia gene
 Azerbaijan is ranked 4th in the world in terms of spread of thalassemia
 26/1000 new-borns in Azerbaijan carry one thalassemia gene and are
diagnosed with thalassemia minor
 1/1000 new-borns in Azerbaijan carry two thalassemia genes and are
diagnosed with thalassemia major

7. Epidemiology and mortality
 A heterozygous carrier of the beta-thalassemia gene is most common
among apparently healthy residents of Shaki, Oghuz, Ismayilli, Goychay,
Shamakhi, Agdash, Ujar, Saatly, Sabirabad
and Salyan.
 The death rate from thalassemia has fallen five times in the past 10 years in
Azerbaijan, according to department head at the Ministry of Health
 On average, beta thalassemia has a mortality rate of 7%
 Children with thalassemia need blood transfusions 1-2 times in a month.
Without the appropriate treatment, such children can live no longer than
10 years.

9. Thalassemia centre in Baku
 Since its establishment in 2007, the Thalassemia Center in Baku has offered
all conditions both scientific and practical for studying thalassemia.
 The Center of Thalassemia in Azerbaijan has become a public legal entity,
and for patients receiving treatment at the center, the services is free of
charge
 Currently, 3,100 patients undergo continuous treatment at the Center, of
whom 2,977 are patients diagnosed with Thalassemia.
 In 2017, a total of 12 patients underwent transplant operations in the
Republican Thalassemia Center, among which one was diagnosed with
acute leukemia, one with aplastic anemia, 10 with a large Beta Thalassemia

11. Historical relevance in disease
evolution
 Mutations are connected to the secular trade along the great Silk Road
and to the invasion of the Mongols (1,220 A.D.) and the Tatars (1,380–87
A.D.).
 It might also be related to the Oghuz Turks who migrated there from
central Asia.
 From extensive studies on the geographical distribution of the molecular
basis of β-thalassemia, it has been shown that, despite the wide spectrum
of mutations, the number of prevalent molecular defects for each
population is limited.

12. Preventative and treatment measures
which are in place
 Increasing the awareness among the population
 Improving medical care to patients suffering from thalassemia
 Prenatal screening for codon 8AA, IVS2-1 and IVS1-110
 Genetic counselling compulsory for everyone before marriage
 Monitoring autosomal recessive gene carriers
 Support groups for parents of affected children
 Reduction of marriages between relatives

13. Thalassemia in relation to Malaria: An
Evolutionary Adaption
 Malaria previously endemic to Azerbaijan was eradicated in the 1950s
 The thalassemia trait may confer a degree of protection against malaria,
thus conferring a selective survival advantage on carriers (known as
heterozygous advantage), thus perpetuating the mutation.
 In that respect, the various thalassemias resemble another genetic disorder
affecting hemoglobin, sickle-cell disease.
 The effect is associated with reduced parasite replication in the red blood
cell due to the structural defects of the haemoglobin.

14. Malaria-Thalassemia relation
Malaria map Thalassemia map

15. Conclusion
 Beta thalassemia is present throughout southern regions of the former
USSR
 Azerbaijan previously being endemic to malaria resulted in gene mutations
of its inhabitants to create a resistance against the disease
 Azerbaijan is a crossroad between Middle East, Europe and Asia and is
closely related to the Silk Route. It was also a pilgrimage site for Indian
Zoroastrians. For these reasons, beta thalassemia is commonly
encountered.
 Until recently in Azerbaijan, most thalassemia children died very young. In
recent years infant mortality dropped and diagnosis and treatment are
becoming more widely available.

16. Thank you!
Petroglyphs in Gobustan National Park dating back to the 10th millennium BC indicating
a thriving culture. It is a UNESCO World Heritage Site.

17. References
1. Beta thalassemia. (2017, April 11)
2. ghr.nlm.nih.gov/condition/beta-thalassemia
3. Beta thalassemia (Cooley’s anemia) in children. (n.d.)
4. Facts about thalassemia. (2016, May 24)
5. cdc.gov/ncbddd/thalassemia/facts.html
6. Thalassemia: Healthy living. (2016, November 21)
7. cdc.gov/ncbddd/thalassemia/living.html
8. Cao A, Galanello R (2010) Beta-thalassemia.Genet Med 12: 61-76.
9. https://www.azernews.az/nation/77509.html
10. https://heydar-aliyev-foundation.org/en/content/index/134/The-Life-
without-Thalassemia
11. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5333734/