CASE OF THE MONTH : Anaemia & Jaundice in a Child.

Contributed by

Dr. Ghulam Nabi, MD,

Pediatric Consultant and Neonatologist at Bugshan Hospital, Jeddah, Saudi Arabia (drgnabi2@gmail.com).

Case Presentation: Beta Thalassemia (Cooley Anemia)

A 2-year-old Lebanese girl presented at our clinic for a routine check-up and blood tests. She is a known case of Beta Thalassemia and is under the care of a pediatric hematologist from another hospital. She receives blood transfusions when her hemoglobin level falls below the desired threshold. Her antenatal, natal, and postnatal history are not significant. The patient’s parents are second-degree cousins, and she was born to a primigravida mother at full term through normal delivery.

Physical Examination:

• The patient is active but appears pale with malar prominence of the face (Figure 1).

• Vital signs are normal.
• Growth parameters:
• Weight: 13 kg
• Height: 88 cm
• Head circumference: 46 cm
• Abdomen: No hepatosplenomegaly observed.

Recent Blood Tests:

• Normal, except for bilirubin at 3.5 mg/dL.
• Abdominal ultrasonography: Normal.
• Hemoglobin electrophoresis: Positive for Beta Thalassemia with a marked increase in hemoglobin F (84.8%).

Overview of Beta Thalassemia

The name “Thalassemia” is derived from the Greek word “thalassa,” meaning “the sea,” as the condition was first described in populations living near the Mediterranean Sea.

Hemoglobinopathies are a congenital group of blood disorders that are classified into two major groups:

1. Quantitative or Qualitative Deficiencies in Globin Chain Production:

• Alpha Thalassemia: A disorder of alpha globulin synthesis.
• Beta Thalassemia and Sickle Cell Disease: Disorders of beta globin synthesis.

1. Structural Abnormalities of Globin Chains:

• Example: Hemoglobin S, C.

Classification of Beta Thalassemia:

• Minor
• Intermediate
• Major

Thalassemia Major is the most common worldwide cause of transfusion-dependent anemia in childhood. Affected patients are usually normal at birth but develop significant anemia in the first year of life. Many neonates with hemoglobinopathies are identified through neonatal screening. If not identified and treated with blood transfusions, these patients may experience poor growth, massive hepatosplenomegaly, and medullary space enlargement.

Skeletal changes due to ineffective erythropoiesis and marrow hyperplasia result in classical facial deformities, such as a prominent forehead and maxilla. The patient is prone to pathological fractures. Blood tests are essential for diagnosing the disease, and blood transfusions are necessary to maintain hemoglobin levels between 9.5 to 10.5 g/dL. Iron chelation therapy is used to eliminate excess iron from the body. Early hematopoietic stem cell transplantation is a critical therapeutic option with a 90% success rate.

Epidemiology

India has the largest number of children with Thalassemia Major in the world, with around 100,000 to 150,000 children affected. Beta Thalassemia is rare in Kashmir but present in Jammu. A study by Vasudev and Sahaney found that the disease is prevalent in Jammu, Rajouri, and Udumpore.

References

1. Vasudev R., Sahaney V. Thalassemia major and intermediate in Jammu and Kashmir, India. Indian Journal of Hematology and Blood Transfusion, 2014 Dec; 30(4): 297-300.
2. Jalil T., Yousafzai Y.M., Rashid I., Ahmed S., Ali A., Fatima S., Ahmed J. Mutational Analysis of Beta Thalassemia by Multiplex ARMS-PCR in Khyber Pakhtunkhwa, Pakistan. Journal of Ayub Medical College Abbottabad, 2019 Jan-Mar; 31(1): 98-103.
3. Sarkar S.K., Shah M.S., Begum M., Yunus A.M., Aziz M.A., Kabir A.L., Khan M.R., Rehman F., Rehman A. Red Cell Alloantibodies in Thalassemia Patients Who Received Ten or More Units of Transfusion. Mymensingh Medical Journal, 2019 Apr; 28(2): 364-369.
4. Manzoor I., Zakar R. Sociodemographic Determinants Associated with Parental Knowledge of Screening Services for Thalassemia Major in Lahore. Pakistan Journal of Medical Sciences, 2019 Mar-Apr; 35(2): 483-488.
5. Singha K., Taweenan W., Fucharoen G., Fucharoen S. Erythrocyte Indices in a Large Cohort of β-Thalassemia Carriers: Implication for Population Screening in an Area with High Prevalence and Heterogeneity of Thalassemia. International Journal of Laboratory Hematology, 2019 Aug; 41(4): 513-518.