What Is Thalassemia Intermedia?
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Thalassemia Intermedia - Causes, Symptoms, Diagnosis, and Treatment

Published on Oct 13, 2022   -  4 min read


Thalassemia intermedia is characterized by mild to moderate anemia, which occasionally requires transfusion. Read the article mentioned below.


Thalassemia is a group of blood disorders affecting hemoglobin, a protein component of red blood cells. Hemoglobin is a red, iron-rich, oxygen-carrying blood pigment. The primary function of red blood cells is carrying oxygen throughout the body. People who inherit thalassemia cannot produce hemoglobin, causing anemia (decreased red blood cell count) and other complications.

Thalassemia can be divided into three categories:

  • Minor- A person has a gene for a mutation but does not have a disease. This is sometimes called minor thalassemia.

  • Intermediate- An individual with thalassemia somewhere between the trait and the major.

  • Major- Thalassemia individuals in need of lifelong red blood cell transfusions.

What Is Thalassemia Intermedia?

Intermediate thalassemia is a middle-grade clinical symptom of the asymptomatic carrier β-thalassemia minor and the transfusion-dependent severe anemia β-thalassemia major. Significant clinical polymorphisms characterize it due to its genetic heterogeneity.

What Causes Thalassemia Intermedia?

Thalassemia intermedia is hereditary and can be attributed to a variety of genotypes. In addition, multiple forms of complex heterozygous thalassemia can also lead to a clinical course consistent with moderate thalassemia.

What Are the Symptoms Seen With Thalassemia Intermedia?

Thalassemia intermediates are milder than major thalassemias. Therefore, signs and symptoms of moderate thalassemia appear in early childhood or later years.

  • Affected individuals have mild to moderate anemia, are slow-growing, have bone abnormalities, and may require regular blood transfusions.

  • They have a very different representation of disease. Each case is unique. Common symptoms include paleness, jaundice, leg ulcers, gallstones (gallstones), and abnormal liver and spleen enlargement.

  • It covers a broad clinical spectrum that includes more severe cases from two to six years of age with anemia, spleen, and sometimes liver hypertrophy and delayed growth and development.

  • In other cases, the patient is completely asymptomatic and has only mild anemia until adulthood.

  • Bone marrow hypertrophy with the possibility of erythropoiesis bone marrow enlargement is common, with characteristic bone and facial deformities, osteoporosis with pathological fractures of the long bones, and mainly in the spleen, liver lymph nodes, and breast. In addition, it results in the formation of an influential erythropoietic mass.

  • Although less common, red blood cell hypertrophy can cause neurological problems (spinal cord compression with paraplegia).

  • Cardiac involvement can also occur due to high output and pulmonary hypertension, but the contractile function of the left ventricle is usually maintained.

How Is Thalassemia Intermedia Diagnosed?

  • Differences between complete blood count (CBC) and thalassemia intermedia patients indicate anemia. Hemoglobin (Hb) levels below 7 to 8 g/dl indicate severe cases. Whether thalassemia is severe or moderate can only be determined after proper monitoring.

  • Iron research should be conducted as a baseline in anticipation of future iron overload or to diagnose and treat this condition if suspected.

  • 24-hour Deferoxamine-induced urinary iron excretion is a valuable test in deciding when to start chelation therapy (the presence of sufficient iron available for chelation). However, it is not a practical test to assess iron overload.

  • Even computerized liver scans (CT) or magnetic resonance imaging (MRI) to assess iron deposits have helped monitor patients with transfusion and chelating therapies.

  • Genetic counseling and DNA research using DNA probes from known thalassemia intermediate genotypes will greatly help prenatal diagnosis and the identification of new cases of selected at-risk patients.

  • Genotyping helps determine whether to have an abortion if the fetus is affected. The intermediate genotype of thalassemia is likely to indicate a milder condition, and parents can choose to continue their pregnancy.

  • Liver biopsy is indicated for patients receiving chelation therapy for hemosiderosis to assess the degree of liver lesions and iron overload.

  • Red blood cell hyperplasia is a significant finding in the bone marrow. Also, excessive iron deposits are observed in the bone marrow and the liver at a later stage. Osteopenia and osteoporosis are also observed in untreated individuals with relatively low hemoglobin (Hb) levels.

How Is Thalassemia Intermedia Treated?

Not all people with thalassemia intermedia need treatment, but it is essential to continue immediate medical care to be aware of complications.

  • Blood Transfusions- Moderate thalassemias may require blood transfusions but are generally less frequent than major thalassemias until adulthood. Blood transfusions may be needed during increased growth and development (puberty), illness (especially with fever), pregnancy, or surgery preparation.

  • Folic Acid- Some doctors may recommend daily folic acid to support the production of red blood cells.

  • Splenectomy- In thalassemia, the spleen may enlarge (splenomegaly) to improve red blood cell production. This is often ineffective and can exacerbate anemia and increase the need for blood transfusions. In these situations, splenectomy may be considered.

  • Hydroxyurea- Hydroxyurea is a drug taken orally daily to increase hemoglobin levels, reducing the need for red blood cell transfusions.

  • Low-Iron Diet- As people with thalassemia intermedia are at risk of developing iron overload from increased iron absorption in the diet, a low-iron diet may be recommended. Tea, mainly black tea, decreases iron absorption and may be guided with meals.

  • Chelation- This treatment uses a drug that binds to iron. Iron is eliminated from the body by urination and defecation.

What Is the Prognosis for Thalassemia Intermedia?

Prognosis is usually good with proper monitoring and treatment. Patients typically do not have severe hemosiderosis and are less likely to develop heart problems associated with iron overload. However, pulmonary hypertension, thromboembolic complications, overwhelming sepsis after splenectomy, and the development of hepatocellular carcinoma can shorten survival.


Thalassemia intermedia is a hereditary blood disorder characterized by decreased levels of functional hemoglobin resulting in severe anemia causing serious life-threatening complications if left untreated. With proper monitoring and treatment the overall outcome for thalassemia intermedia is good.

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13 Oct 2022  -  4 min read




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