A case report of hereditary spherocytosis affecting mother and child with varied severity

Venkatamurthy M, B Aditya Kumar

Abstract


Hereditary spherocytosis (HS) is a genetically transmitted form of spherocytosis, an autohemolytic anemia characterized by the production of red blood cells that are sphere-shaped rather than biconcave disc, and therefore more prone to hemolysis. It is a result of heterogeneous alterations in one of six genes (most often the ankyrin gene) that encode for proteins involved in vertical associations that tie the membrane skeleton to the lipid bilayer. We report a case of Heriditary spherocytosis affecting both mother and the baby with varied severity.


Full Text:

PDF HTML

References


Miraglia del Giudice E, Francese M, Nobili B, Morlé L, Cutillo S, Delaunay J, Perrotta S. High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis. J Pediatr. 1998 Jan;132(1):117-20.

Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet.2008 Oct 18;372 (9647):1411-26.doi:10.1016/ S0140-6736 (08) 615 88-3.

Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ; General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis. Br J Haematol. 2004 Aug;126(4):455-74.

Kar R, Mishra P, Pati HP. Evaluation of eosin-5-maleimide flow cytometric test in diagnosis of hereditary spherocytosis. Int J Lab Hematol. 2010 Feb;32 (1Pt 2):8-16. doi: 10.1111/j.1751-553X. 2008. 01098.x. Epub 2008 Sep 8.

Tchernia G, Delhommeau F, Perrotta S, et al. Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. Hematol J 2000; 1:146.

Schröter W, Kahsnitz E. Diagnosis of hereditary spherocytosis in newborn infants. J Pediatr. 1983 Sep; 103 (3):460-3.

Delhommeau F, Cynober T, Schischmanoff PO, Rohrlich P, Delaunay J, Mohandas N, Tchernia G. Natural history of hereditary spherocytosis during the first year of life. Blood.2000 Jan 15;95(2):393-7.


Refbacks

  • There are currently no refbacks.