From the Guidelines
The answer is (c) thalassemia, as it is a genetic disorder characterized by defects in the hemoglobin chain synthesis that can benefit from splenectomy in certain cases. Thalassemia is a condition where there are defects in the production of one or more of the globin chains, resulting in reduced or absent production of hemoglobin. Specifically, beta-thalassemia involves mutations in the beta-globin gene, while alpha-thalassemia involves mutations in the alpha-globin gene. In severe cases of thalassemia, particularly beta-thalassemia major, splenectomy may be considered as a therapeutic option to reduce the rate of hemolysis, decrease transfusion requirements, and alleviate symptoms related to splenomegaly, as noted in studies such as 1.
The spleen becomes enlarged (splenomegaly) in thalassemia patients due to extramedullary hematopoiesis and increased destruction of abnormal red blood cells. Splenectomy can help reduce the rate of hemolysis, decrease transfusion requirements, and alleviate symptoms related to splenomegaly. However, it's essential to note that splenectomy is not a cure for thalassemia and is typically reserved for specific indications such as hypersplenism, increased transfusion requirements, or symptomatic splenomegaly, as discussed in 1.
Some key points to consider when evaluating the effectiveness of splenectomy in thalassemia include:
- The potential benefits of splenectomy in reducing hemolysis and transfusion requirements
- The risks associated with splenectomy, including surgical complications and long-term risks such as infections and thromboembolism, as highlighted in 1 and 1
- The importance of careful patient selection and consideration of individual factors when deciding whether to proceed with splenectomy.
In contrast, the other conditions listed either don't primarily involve hemoglobin chain defects (ITP, G6PD deficiency) or involve membrane defects rather than hemoglobin chain abnormalities (hereditary spherocytosis), and therefore are not typically considered for splenectomy as a treatment for a defect in the hemoglobin chain.
From the Research
Defect in the Hemoglobin Chain that Responds to Splenectomy
- The correct answer is (b) hereditary spherocytosis, as it is a defect in the red blood cell membrane that responds to splenectomy 2, 3, 4, 5, 6.
Characteristics of Hereditary Spherocytosis
- Hereditary spherocytosis is a hemolytic anemia characterized by the retention and damage of abnormal red cells, caused by an intrinsic erythrocyte membrane defect 2.
- The disease is caused by mutations in genes that encode red blood cell membrane and cytoskeletal proteins, leading to decreased membrane integrity and reduced deformability of the cells 3.
Effect of Splenectomy on Hereditary Spherocytosis
- Splenectomy removes the primary site of red blood cell damage and destruction, leading to an increase in the lifespan of red cells and a significant reduction in the severity of anemia 3, 4, 5, 6.
- Splenectomy can be performed either as a total or partial splenectomy, with partial splenectomy aiming to retain splenic immunologic function while decreasing the rate of hemolysis 4, 6.