Mediterranean Anemia in Children: Is Further Testing Needed?

Mediterranean anemia with an Hb level of 9.3?

Hello doctor, my 4-year-old child recently had a cold that led to pneumonia and was hospitalized.
On the day of admission, the blood test showed a hemoglobin (Hb) level of 8.8.
After 4 days of hospitalization, the discharge test showed an Hb level of 9.3, with HBA2 at 0.06 and MCV at 54.4.
Earlier this year in April, my child had an adenovirus infection, during which the Hb was 9.6.
Additional tests for iron deficiency were conducted, but the doctor indicated there was no evidence of iron deficiency.
The doctor mentioned it is beta-thalassemia (inherited from the father's genes).
I would like to ask if an Hb level of 9.3 requires further testing.

Mr. Chen, 0~9 year old female. Ask Date: 2022/08/25

Dr. Xiao Kaiwen reply Pediatrics

HB 9.3 and MCV 54.4 indicate microcytic anemia.
In Taiwan, the most common types are iron deficiency anemia and thalassemia (which is hereditary).
If iron deficiency anemia has been ruled out, and there is a family history of thalassemia along with a hemoglobin electrophoresis test, a diagnosis of thalassemia can be made.
An HB level of 9.3 is classified as moderate thalassemia, which typically does not require blood transfusions.
However, it is important to monitor for symptoms such as pallor, fatigue, dizziness, and decreased exercise tolerance, as these may necessitate checking hemoglobin levels for any significant drops.
Additionally, it is advisable to undergo premarital health screening before marriage.

Reply Date: 2022/08/25

More Info

Understanding Mediterranean Anemia, also known as Thalassemia, particularly in children, is crucial for proper management and care. Your child's recent hospitalization due to pneumonia and the subsequent blood tests revealing a hemoglobin (Hb) level of 9.3 g/dL and MCV (Mean Corpuscular Volume) of 54.4 fL indicate a microcytic anemia, which is consistent with Thalassemia. The HbA2 level of 0.06 suggests that there may be a beta-thalassemia trait, especially since you mentioned that this condition is inherited from the father.

In children, Thalassemia can manifest in various forms, with beta-thalassemia being one of the most common types. The severity of the condition can vary significantly, ranging from mild anemia to severe forms requiring regular blood transfusions. The Hb level of 9.3 g/dL is indicative of anemia, but it is essential to understand the underlying cause and whether further testing is necessary.

Given that your child has already undergone tests for iron deficiency and the results indicated no deficiency, it is essential to consider additional evaluations. Here are some recommendations for further testing and management:
1. Hemoglobin Electrophoresis: This test can provide a more detailed analysis of the different types of hemoglobin present in the blood. It can help confirm the diagnosis of Thalassemia and differentiate it from other types of anemia.

2. Genetic Testing: Since Thalassemia is a genetic disorder, genetic testing can help identify specific mutations in the hemoglobin genes. This can provide valuable information for family planning and understanding the risk of passing the condition to future children.

3. Complete Blood Count (CBC): Regular monitoring of your child's CBC is essential to track hemoglobin levels and other blood parameters. This will help assess the progression of the anemia and the need for any interventions.

4. Iron Studies: Although initial tests showed no iron deficiency, it may be beneficial to repeat iron studies periodically to ensure that iron levels remain adequate, especially if your child experiences any changes in health status.

5. Consultation with a Hematologist: Given the complexity of Thalassemia management, consulting a pediatric hematologist is advisable. They can provide specialized care, including monitoring for potential complications and discussing treatment options if necessary.

6. Monitoring for Symptoms: Keep an eye on any symptoms your child may exhibit, such as fatigue, pallor, or any signs of increased heart rate or respiratory distress. These symptoms can indicate worsening anemia and may require prompt medical attention.

7. Nutritional Support: Ensure that your child has a balanced diet rich in vitamins and minerals, particularly folate and vitamin B12, which are essential for red blood cell production. While iron supplementation is not indicated in Thalassemia, a well-rounded diet can support overall health.

In summary, while your child's Hb level of 9.3 g/dL is concerning and indicative of anemia, further testing such as hemoglobin electrophoresis and genetic testing is warranted to confirm the diagnosis of Thalassemia and assess its severity. Regular follow-up with a pediatrician or hematologist will ensure that your child receives appropriate care and monitoring. Early intervention and management can significantly improve the quality of life for children with Thalassemia.

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