Hereditary spherocytosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Zahir Ali Shaikh, MD[2]
Overview
Hereditary spherocytosis is a genetically-transmitted form of spherocytosis, an auto-hemolytic anemia characterized by the production of red blood cells that are sphere-shaped rather than donut-shaped, and therefore more prone to hemolysis.
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Hereditary Spherocytosis from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Treatment
Medical Therapy
- There is no specific medical therapy for hereditary spherocytosis. As the diagnosis of hereditary spherocytosis is made, surveillance is needed to help detect and manage any complications.[1]
- A routine annual review is usually sufficient to detect any complications such as parvovirus infection or abdominal pain which may necessitate the investigation for gallstones.
- Folate supplementation is not always required, but is used as a routine for children with severe hemolysis and in pregnancy, regardless of severity of hereditary spherocytosis.[2]
Surgery
- Splenectomy is very effective in reducing hemolysis, leading to significant prolongation of the red cell life span.[3][4]
- Patients should be selected for splenectomy on the basis of their clinical symptoms and presence of complications such as gallstones, not simply on the basis of diagnosis alone.
- Following splenectomy, the clinical manifestations and complications (anemia & gallstones) are much reduced in severe hereditary spherocytosis and abolished in milder cases, but at the risk of increased life threatening sepsis from encapsulated organisms, particularly streptococcus pneumoniae.[1][5]
- Children or young adults with mild hereditary spherocytosis who also has gallstones are likely to benefit from combined splenectomy and cholecystectomy in terms of life expectancy.[1]
Primary Prevention
- The administration of vaccines (pneumococcal, haemophilus influenzae type b, meningococcal group C and influenza) is indicated 2 to 3 weeks before splenectomy.[6]
- Postsplenectomy patients should also be given 1mg of folic acid daily for preventing secondary folic acid deficiency and oral penicillin (penicillin V) for preventing secondary infection until reaching adulthood.
Secondary Prevention
Case Studies
Related Chapters
External links
References
- ↑ 1.0 1.1 1.2 Bolton-Maggs, P. H. B.; Stevens, R. F.; Dodd, N. J.; Lamont, G.; Tittensor, P.; King, M.-J. (2004). "Guidelines for the diagnosis and management of hereditary spherocytosis". British Journal of Haematology. 126 (4): 455–474. doi:10.1111/j.1365-2141.2004.05052.x. ISSN 0007-1048.
- ↑ P. H. B. Bolton-Maggs (2004). "Hereditary spherocytosis; new guidelines". Archives of disease in childhood. 89 (9): 809–812. doi:10.1136/adc.2003.034587. PMID 15321852. Unknown parameter
|month=ignored (help) - ↑ P. H. B. Bolton-Maggs, R. F. Stevens, N. J. Dodd, G. Lamont, P. Tittensor & M.-J. King (2004). "Guidelines for the diagnosis and management of hereditary spherocytosis". British journal of haematology. 126 (4): 455–474. doi:10.1111/j.1365-2141.2004.05052.x. PMID 15287938. Unknown parameter
|month=ignored (help) - ↑ Casale, Maddalena; Perrotta, Silverio (2014). "Splenectomy for hereditary spherocytosis: complete, partial or not at all?". Expert Review of Hematology. 4 (6): 627–635. doi:10.1586/ehm.11.51. ISSN 1747-4086.
- ↑ Sayeeda Huq, Mark A. C. Pietroni, Hafizur Rahman & Mohammad Tariqul Alam (2010). "Hereditary spherocytosis". Journal of health, population, and nutrition. 28 (1): 107–109. PMID 20214092. Unknown parameter
|month=ignored (help) - ↑ Sayeeda Huq, Mark A. C. Pietroni, Hafizur Rahman & Mohammad Tariqul Alam (2010). "Hereditary spherocytosis". Journal of health, population, and nutrition. 28 (1): 107–109. PMID 20214092. Unknown parameter
|month=ignored (help)