HomeHealth articlesthalassemiaWhat Is Delta-Beta Thalassemia?

Delta-Beta Thalassemia - Symptoms, Diagnosis, and Treatment

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It is a type of thalassemia caused due to deletion of both delta and beta genes on chromosome 11. Refer to this article to know more in detail.

Medically reviewed by

Dr. Mubashir Razzaq Khan

Published At November 22, 2022
Reviewed AtFebruary 13, 2024


Researchers have stated that δβ thalassemia is caused due to mutation affecting chromosome 11. The mutation associated with this disorder is deletion type, which involves the deletion of delta and beta genes on chromosome 11. As delta and beta genes get deleted, the gamma gene's production increases to compensate for the loss. Thus, resulting in an increase in HbF production. A total of nine mutations are noted, which results in δβ thalassemia. This variant of thalassemia is mainly noted in Mediterranean regions, including Italy, Greece, and turkey, and it is a rare finding in the Indian subcontinent.

What Is Delta-Beta Thalassemias and How Is It Different From Other Thalassemias?

Thalassemia is a group of inherited hematological disorders (blood disorders) which is caused due to defects in the synthesis of the hemoglobin chains.

Broadly, thalassemia has been classified as:

  • Alpha Thalassemia: It is caused due to reduced or absence of the synthesis of the alpha globin chain.

  • Beta-Thalassemia: It is caused due to reduced or lack of synthesis of the beta-globin chain.

Apart from these, there are six beta-thalassemia syndromes (a set of associated symptoms describing a particular condition), and gamma thalassemia is one of them.

So, the following are the thalassemia syndromes:

  1. Beta thalassemia.
  2. Delta-beta thalassemia.
  3. Gamma thalassemia (γ-Thalassemia).
  4. Delta thalassemia.
  5. Εγδβ- thalassemia.
  6. HPFH syndrome.

So, it can be concluded that δβ thalassemia is one of the forms of the syndromes associated with thalassemia, and they present almost similar features as another thalassemia.

How Does an Individual Get Affected by Thalassemia?

Hemoglobin is formed by the heme ring and the globin chain. The heme ring consists of iron, and the globin chain consists of two alpha and two beta chains. The composition of the globin chain determines the type of hemoglobin. At birth, fetal hemoglobin (gamma globin) accounts for 80 % of the hemoglobin, whereas the other 20 % of the hemoglobin is formed by alpha hemoglobin.

The transition of this gamma-globin to beta-globin begins even before the child's birth. In normal cases, fetal hemoglobin comprises two alpha and two gamma chains, whereas, in adults, the hemoglobin is made up of two alpha and two beta chains. But in individuals suffering from thalassemia, there is a reduction or absence of one of the globin chains, alpha globin chain or beta globin chain. Alpha-globin synthesis is controlled by genes present on chromosome 16, whereas genes on chromosome 11 control beta-globin synthesis. Mutations (alteration of the genetics sequences) in these genes lead to faulty globin chain synthesis, resulting in thalassemia-like conditions. Researchers have mapped around 200 mutations responsible for thalassemia.

Can a Child Get Thalassemia From Their Parents?

Thalassemia is an inherited genetic disorder with an autosomal recessive pattern of inheritance. This means that both the parents, the mother and the father of the individual affected by thalassemia, carry the defective genes, but the parents do not show the symptoms of the disease. Genetic mutations (structural changes in the genes) are associated with any type of thalassemia. There is a 25 % chance or probability that parents who are carriers of the thalassemia-causing defective gene will have children who will have thalassemia. Genetic mapping in the prenatal stage can help doctors analyze the probability of the child suffering from thalassemia.

What Are the Signs and Symptoms Seen in Individuals Suffering From Delta-BetaThalassemias?

The symptoms depend upon the form of thalassemia the patient is suffering from:

  • Thalassemia Major:
  • Severe anemia.
  • Pallor (paleness of the skin): It is a common finding noted in such individuals.
  • Regional growth: The growth of individuals suffering from thalassemia is noted to be retarded or slowed down compared to individuals of the same age group.
  • Splenomegaly, that is, enlargement of the spleen is also noted. Due to splenomegaly, individuals suffer from loss of appetite; they feel full even if they have no food.
  • Frequent infections in the ear, nose, and throat.
  • As there is an increased iron overload in such patients, disorders related to endocrine glands are very commonly noted, which include hypothyroidism (decreased functioning of thyroid glands, diabetes mellitus, and testicular and ovarian failure.
  • Thalassemia Minor: Anemia symptoms are less severe than thalassemia major, and frequent blood transfusion is not required in such patients.
  • Thalassemia Intermedia: This form depicts symptoms between major and minor types. It is comparatively less severe than thalassemia major.

What Are the Laboratory Tests Advised for Diagnosing Delta-Beta Thalassemias?

Following are a few laboratory tests that help the doctor diagnosing δβ thalassemia:

  • Test for anemia which includes hemoglobin count and means corpuscles volume.

  • Peripheral blood smear in this test blood sample collected from the patient is spread on the glass slide, and a microscopic examination is done to analyze the shape and number of the red blood cells.

  • Serum ferritin level is tested to get an idea regarding the stored iron levels.

  • Hemoglobin electrophoresis is the process in which the hemoglobin is moved under the influence of the electric field, which helps determine the quality and physical properties of the hemoglobin.

  • Genetic tests are the latest laboratory tests advised by the doctor. These tests are done to identify and analyze the genetic composition of the individuals. The defective genes are identified, and the cause of thalassemia and its type can also be determined.

What Are the Radiographic Findings Noted in Delta-Beta Thalassemias?

Radiographic findings mean the features seen in the X-ray reports (radiographs) of the individuals. Following are the few common radiographic findings noted in δβ thalassemia:

  • Radiographic examination of long bones depicts thinning of the bone, and a decrease in bone density is also noted.

  • Bone marrow cavities get narrowed in individuals suffering from δβ thalassemia.

  • Sunray appearance is a common radiographic finding noted in such cases. The bone reactions in the outer surface of these bones result in such an appearance.

  • Widening of the skull plates gives an appearance of hair on end.

  • The maxillary sinus, one of the four paranasal sinuses, gets enlarged in such patients.

  • Dental issues can also be noted, which include protruded upper jaw teeth and increased overbite.

  • There is an increased probability of bone fractures in such disorders.

What Are the Treatment Protocols For Delta-BetaThalassemia?

  • Blood transfusions help compensate for the abnormal hemoglobin present in these individuals with normal hemoglobin.

  • Iron chelation therapy is based on decreasing iron overload by removing excess iron.

  • Splenectomy means surgical removal of the spleen.

  • Bone marrow transplant focuses on correcting faulty hemoglobin production.

  • Gene therapy is based on targeting the defective genes causing this disorder. They are still a topic of research.


Thalassemia affects humans worldwide and is a significant concern for healthcare workers. Awareness programs and voluntary blood donation camps can help treat thalassemia patients better, improving the prognosis. Early diagnosis can help in enhancing the life expectancy of the individual. Moreover, advancements in the field of medical genetics are focusing on developing new treatment modalities.

Frequently Asked Questions


What Are the Three Forms of Beta Thalassemia?

There are three main forms of beta thalassemia:
- Beta Thalassemia Minor: It is a mild form of the condition in which a person has one abnormal beta globin gene and one normal beta globin gene.
- Beta Thalassemia Intermedia: It is a moderate form of the condition in which a person has two abnormal beta-globin genes, but the symptoms are not as severe as the severe form of beta-thalassemia.
- Beta Thalassemia Major: It is the most severe form of the condition in which a person has two abnormal beta globin genes and requires regular blood transfusions to survive.


Is Delta Thalassemia Gene-Related?

Delta Thalassemia is inherited in an autosomal recessive pattern, which means that both parents must be carriers of the mutation for a child to be affected. Delta thalassemia can cause anemia and other serious health problems. It can also lead to complications during pregnancy, such as preterm birth and low birth weight.


How Long Will a Person With Beta Thalassemia Live?

People with beta-thalassemia can experience a range of symptoms, including anemia, fatigue, and bone deformities. The life expectancy of someone with beta thalassemia depends on the severity of their condition and how it is managed. With proper medical care and treatment, those living with beta-thalassemia can have a near-normal life expectancy.


Can Beta Thalassemia Be Inherited?

Beta-thalassemia is a hereditary condition, meaning it can be passed down from parents to their children. If one parent has beta thalassemia, there is a chance that their children could inherit the condition as well. People with beta thalassemia often experience symptoms such as anemia, fatigue, and jaundice.


Does Beta Thalassemia Have a Cure?

While there is no cure for beta thalassemia, there are treatments available to help manage the symptoms and prevent complications. Treatment options include regular blood transfusions, iron chelation therapy, and gene therapy. With proper management, people with beta-thalassemia can lead healthy and active lives.


Is Thalassemia a Dangerous Condition?

Thalassemia can range in severity, depending on the type and specific genetic mutation involved. The most severe form, beta thalassemia major, can be life-threatening if left untreated. People with this form of the disease typically require regular blood transfusions and may develop serious complications such as iron overload, bone deformities, and an increased risk of infection. Beta thalassemia minor and intermedia are generally less severe and may not require treatment.


Can Thalassemia Cause Cancer?

Thalassemia is not considered a cancer-causing disorder, but people with thalassemia may be at a higher risk for certain types of cancer, such as leukemia. This elevated risk is probably brought on by the fact that thalassemia patients often require frequent blood transfusions, which can lead to an accumulation of iron in the body. The excess iron can damage DNA and increase the risk of cancer. However, it is crucial to note that the risk of cancer is still relatively low in thalassemia patients, and the benefits of blood transfusions often outweigh the potential risks.


What Is Meant by Delta Beta Thalassemia Trait?

Delta-beta thalassemia trait refers to a genetic condition in which a person has inherited one abnormal gene for the beta-globin subunit of hemoglobin, the oxygen-carrying protein found in red blood cells from one parent and one normal gene from the other parent. This results in a mild form of thalassemia, also known as thalassemia minor, which typically causes no symptoms or only mild anemia (a reduction in the amount of hemoglobin or red blood cells in the blood).


What Is Chromosome 11 Mutation?

A chromosome 11 mutation is a change or alteration in the genetic material (DNA) located on chromosome 11. These mutations can occur in a variety of forms, including deletions, duplications, and point mutations, and can have a range of effects on the individual depending on the specific genes affected and the severity of the mutation.


What May Be Confused With Thalassemia?

Thalassemia may be confused with other types of anemia, such as iron-deficiency anemia, sickle cell anemia, and pernicious anemia. It may also be mistaken for other genetic disorders that affect the production of hemoglobin, such as sickle cell disease or other types of hemoglobinopathies. It is important to consult a doctor or a genetic counselor for proper diagnosis and treatment.


Will Thalassemia Result in Death?

Yes, if left untreated, severe forms of thalassemia can lead to severe anemia, organ damage, and death. However, with proper treatment and management, the life expectancy of people with thalassemia can be close to that of the general population.
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Dr. Mubashir Razzaq Khan
Dr. Mubashir Razzaq Khan



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