1 NIH US National Library of Medicine. Genetics Home Reference: Beta thalassemia. Available at: https://ghr.nlm.nih.gov/condition/beta-thalassemia. Accessed November 2019. 2 National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center. Beta-thalassemia. Available at: http://rarediseases.info.nih.gov/gard/871/beta-thalassemia/resources/1. Accessed November 2019. 3 Cao A, Galanello R. Beta-thalassemia. Genetics in Medicine. 2010;12:61–76. Available at: http://www.nature.com/gim/journal/v12/n2/full/gim201012a.html?foxtrotcallback=true. Accessed November 2019. 4 Galanello R, Origa R. Beta-thalassemia. Orphanet Journal of Rare Diseases. 2010;5(11). Available at: https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-11. Accessed November 2019. 5 National Organization of Rare Disorders. Available at: https://rarediseases.org/rare-diseases/thalassemia-major/. Accessed November 2019. 6 NIH US National Library of Medicine. Genetics Home Reference: HBB gene. Available at: https://ghr.nlm.nih.gov/gene/HBB#normalfunction. Accessed November 2019. 7 Muncie Jr HL, Campbell J. Alpha and beta thalassemia. Am Fam Physician. 2009; 80(4):339-344. Available at: https://www.ncbi.nlm.nih.gov/pubmed/19678601. Accessed November 2019. 8 NIH Heart Lung and Blood Institute. How Are Thalassemias Diagnosed? Available at: https://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/diagnosis. Accessed November 2019. 9 Mayo Clinic. Enlarged spleen (splenomegaly). Available at: https://www.mayoclinic.org/diseases-conditions/enlarged-spleen/diagnosis-treatment/drc-20354331.

Accessed November 2019.10 Mayo Clinic. Thalassemia. Available at: https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995.

Accessed November 2019.11 Cappellini MD, Cohen A, Eleftheriou A, et al. Guidelines for the Clinical Management of Thalassaemia.

Available at: https://www.ncbi.nlm.nih.gov/books/NBK173970/. Accessed November 2019.

BETA THALASSEMIAMECHANISM OF DISEASE Beta thalassemia is a rare, inherited blood disorder characterized by low levels of hemoglobin, which resides in red blood cells and carries oxygen throughout the body.1

This leads to:1,2

Beta thalassemia is often classified into three types:2,3,4

MAJORLeads to severe anemia and may cause enlarged liver and spleen, resulting in a need for regular blood transfusions

MINORCarriers are typically asymptomatic, but may have mild anemia

Production of fewer and less healthy red blood cells

Potential to develop severe anemia

Other serious symptoms, such as abnormal blood clots

INTERMEDIACauses mild to moderate anemia and mayhave variable transfusion needs; some patients may need more transfusions as they age

Most beta thalassemia cases are caused by

a mutation in the hemoglobin subunit

beta (HBB) gene, which provides instructions for

making beta-globin.5,6

Two alpha- and two beta-globin protein chains combine to form hemoglobin.6

Significantly reduced levels of beta chains – presenting as

beta thalassemia intermedia

Beta chains

Alpha-globin protein chains

An almost complete lack of beta chains – presenting as

beta thalassemia major

The reduction or lack of beta-globin protein chains leads to an imbalance with the alpha-globin protein chains,resulting in the abnormal formation of red blood cells, a lack of functional hemoglobin and the failure to deliver sufficient amounts of oxygen to the body

HOW IT DEVELOPS

A mutation in two HBB genes can result in either:5

Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia and Southeast Asia1

BUT HAS A GROWING PREVALENCE WORLDWIDEdue to population migration and intermarriage between different ethnic groups4

KEY STATISTICS

BETA THALASSEMIA AFFECTS MEN AND WOMEN EQUALLY7

1.5%have the GENETIC MUTATION that causes one of three types

of beta thalassemia4

80-90 MILLION PEOPLE

GL BALLY

DIAGNOSIS AND SYMPTOMS

GENETIC TESTS

BLOOD TESTS, INCLUDING A COMPLETE BLOOD COUNT AND SPECIAL HEMOGLOBIN TESTS

Anemia Bone and muscle

abnormalities

Abnormalitiesof the spleen,

liver and heart

Growth deficiencies

Cardiac complications (pulmonary hypertension, arrhythmia, thrombosis)

Hepatic and endocrine

complications

Testing includes:8

Symptoms are often dependent on treatment and disease severity, including:2,3

Beta thalassemia is usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations.5 Healthcare professionals typically look at a person’s medical history, symptoms, physicalexam and laboratory test results in order to make a diagnosis.5 Beta thalassemia major is often diagnosed in children under the age of two.1

DISEASE MANAGEMENT

PROGNOSIS

SUPPLEMENTATIONwith folic acid, a B vitamin, boosts the production of red blood cells in certainindividuals.5 B9

Individuals with beta thalassemia MAJOR and some with beta thalassemia INTERMEDIA

as frequently as

weeks in severe cases52-4 EVERY

REQUIRE REGULAR BLOODTRANSFUSIONS

TREATMENT COMPLICATIONS & MANAGEMENT

STEM CELLTRANSPLANT

FOLIC ACID, ALONG WITH OTHER MEDICATIONS, MAY HELP LOWER IRON LEVELS.5

Most common for patients

<16 years of age and/or those with an appropriate match5

can cause severe pain and contribute to anemia5

Splenomegaly may occur due to increased destruction of red blood cells, the formation of blood cells outside of the bone marrow (extramedullary hematopoiesis) or repeated blood transfusions5

Treatment of splenomegaly is often focused on the underlying cause, and may include:9

(an abnormally enlarged spleen)SPLENOMEGALY

Individuals with beta thalassemiaMAJOR AND INTERMEDIA

may develop IRON OVERLOAD, which can affect other organs5

Iron overload is most often managed by iron chelation therapy, which rids the body of extra iron4

Watchful waiting Antibiotics

Radiation Surgical removal (splenectomy)

As a side effect of blood transfusions

Due to increasedabsorption of dietary iron by the gastrointestinal tract

This occurs for TWO reasons:5

Advances in red blood cell transfusions have further prolonged survival in recent years. However, there continue to be very limited options for patients living with anemia due to beta thalassemia who are dependent on long term red blood cell transfusions.4

may be associated with severe beta thalassemia and can impact a patient’s survival.3,10

In more advanced stages, heart and liver problems such as congestive heart failure, abnormal heart rhythms (arrhythmias) and liver fibrosis

With proper disease managementpatients can enjoy a near-normal lifestyle, and can experience normal physical and

emotional development from childhood to adulthood, including parenthood.11