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Facial Presentation in People with Beta-Thalassemia Major

Medically reviewed by Megan Soliman, MD — By Jacquelyn Cafasso on October 18, 2022Thalassemia is a genetic blood disorder that lowers your body’s ability to make an iron-rich protein called hemoglobin. Hemoglobin helps red blood cells carry oxygen to all parts of the body. When there’s not enough hemoglobin, the cells of the body don’t get enough oxygen. This is called anemia. There are two main types of thalassemia: alpha and beta. The type depends on the part of hemoglobin that’s affected. People with beta-thalassemia have a mutation (atypical change) in one or both copies of their HBB gene. The HBB gene tells your body how to make a protein called beta globin. Beta globin is an important subunit of hemoglobin. Beta-thalassemia can also be broken down into two categories:Beta-thalassemia major (Cooley’s anemia) causes severe anemia. In beta-thalassemia major, both genes are affected.Beta-thalassemia minor (thalassemia trait) causes less severe anemia. In beta-thalassemia minor, only one gene is affected. Beta-thalassemia causes symptoms related to anemia, such as: pale skinfatiguefrequent infectionspoor appetitestunted growth It can also cause weak or brittle bones and lead to problems with how your bones develop. In some cases, beta-thalassemia can change certain features of the face. This article will go over how beta-thalassemia can physically affect the face and other parts of the body.

A note about language

Some people use the term “chipmunk face” when describing the facial characteristics of a person with beta-thalassemia. Using language that makes fun of the appearance of people with beta-thalassemia is harmful and insensitive. As people with beta-thalassemia navigate living with a serious condition, it’s important that we take care not to use terms like this to describe facial features that might be different from what is considered “normal.”

Musculoskeletal facial features in people with beta-thalassemia major

You might start having symptoms of beta-thalassemia before your first birthday. Beta-thalassemia causes a condition known as anemia. To prevent complications of anemia, you’ll have to get regular blood transfusions (donated blood through an intravenous line). Without regular blood transfusions of healthy, donated blood, anemia from beta-thalassemia major can affect bone marrow. Bone marrow is a spongy material inside your bones. It’s where most of your blood cells are made. In people with beta-thalassemia, the bone marrow might expand to help the body counteract anemia. This expansion in the bone marrow causes bones to become thinner, wider, and weaker. Wider and weaker bones can lead to bone deformities. These most often happen in the bones of the face and the long bones of the arms and legs. The facial changes caused by overexpansion of the bone marrow may include:upper teeth that are more protruded than the lower teethlarge or full cheekbones (malar eminences)lowered bridge of the nosewider and shorter noseprotruding upper jaw (maxillae)small lower jawupward-slanted eyessmaller tooth sizeteeth that aren’t aligned (malocclusion) The facial features can also lead to issues with speech, swallowing, and chewing or eating. You might also have a higher risk of having dental cavities or gum disease. Starting blood transfusions early in life can help prevent these facial symptoms.

Photos of beta-thalassemia major facial features

If not treated early, beta-thalassemia major can affect the features of the face. Some common facial characteristics of people with beta-thalassemia include: upper teeth that are more protruded than the lower teethlarger cheekbonesa depressed nasal bridgea protruding jaw

Other characteristics of beta-thalassemia major

Overexpansion of the bone marrow can also affect the long bones of the arms and legs, the spine, and the ribs. Some examples of other physical characteristics of beta-thalassemia major include:legs that bend inward so the knees touch, even when the ankles and feet do not (medically referred to as genu valgum and sometimes called “knock knees”)wider ribsspinal deformities, such as curvature of the spine (kyphosis or scoliosis), which can lead to short stature The bones also have a higher risk of breaking (fractures). You might also have lower back pain or stiffness in the joints. It may be possible to prevent these characteristics by starting blood transfusions early in life.

Other symptoms of beta-thalassemia

Symptoms of beta-thalassemia begin to develop after 6 months of age. The symptoms are related to anemia. These may include:pale or fuzzy skinfatiguefrequent infectionslow appetiteslow or stunted growthshortness of breathfast heart rateirritabilityfeeling dizzyswelling in the abdomenenlarged spleen (splenomegaly)yellow skin (jaundice)brittle bones (osteoporosis)

Who is at risk of beta-thalassemia major

Beta-thalassemia is a rare condition in the United States. It’s more common in Mediterranean countries, like Greece and Turkey, and in Asia, Africa, and the Middle East. People with family from these areas also have a higher risk. But people of all ethnicities can have beta-thalassemia. It also affects males and females equally. Beta-thalassemia major is a genetic condition, which means it’s passed down from parents to children through their genes. To get beta-thalassemia major, both biological parents must have at least one copy of the affected gene. Many people find out about their thalassemia because they have relatives with the condition. A genetic counselor can help you and your family understand how beta-thalassemia runs in families.

Takeaway

Beta-thalassemia is an inherited blood disorder that can cause severe anemia. If not treated, the bone marrow might expand to help make up for the anemia. This can cause musculoskeletal symptoms in people with beta-thalassemia major, particularly in the bones of the face. Surgeries and orthodontic treatment can help correct facial symptoms, especially if the bone changes are causing issues with eating or speaking, or feelings of depression or low self-esteem. Your doctor will consider your outlook and overall health along with your safety when deciding on a treatment plan. Last medically reviewed on October 18, 2022

How we vetted this article

SourcesHistoryHealthline has strict sourcing guidelines and relies on peer-reviewed studies, academic research institutions, and medical associations. We avoid using tertiary references. You can learn more about how we ensure our content is accurate and current by reading our editorial policy.Adamopoulos SG, et al. (2020). Skeletal radiological findings in thalassemia major.
jrpms.eu/articles/jrpms_v04i03_076.pdfBeta thalassemia. (2018).
rarediseases.org/rare-diseases/thalassemia-major/#Helmi N, et al. (2017). Thalassemia review: Features, dental considerations and management.
ncbi.nlm.nih.gov/pmc/articles/PMC5407235Karakas S, et al. (2016). Craniofacial characteristics of thalassemia major patients.
ncbi.nlm.nih.gov/pmc/articles/PMC5268604/Mulimani P, et al. (2018). Treatment of dental and orthodontic complications in thalassaemia.
ncbi.nlm.nih.gov/pmc/articles/PMC6491098/Noureldine MHA, et al. (2017). Rheumatological complications of beta-thalassaemia: An overview.
academic.oup.com/rheumatology/article/57/1/19/3077173What is thalassemia? (2022).
cdc.gov/ncbddd/thalassemia/facts.htmlOur experts continually monitor the health and wellness space, and we update our articles when new information becomes available. Current Version Oct 18, 2022 By Jacquelyn Cafasso Edited By Roman Gokhman Medically Reviewed By Megan Soliman, MD Copy Edited By Sara Giusti Share this articleMedically reviewed by Megan Soliman, MD — By Jacquelyn Cafasso on October 18, 2022

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