Clinical features of patients with hemolytic anemia due to red blood cells membrane defect
Keywords:
Hemolytic anemia, red blood cells membrane defect, thalassemia, DNA analysis
Abstract
Background Hemolytic anemia may result from corpuscular orextracorpuscular abnormalities. One of the types of corpuscular
abnormalities is membrane defect. The diagnosis is sometimes
difficult and it may need special hematologic investigations. There
are no data yet on the clinical features of red blood cell membrane
defect in Cipto Mangunkusumo Hospital.
Objective To evaluate the clinical features and laboratory find-
ings of patients with hemolytic anemia due to red blood cells mem-
brane defect in Cipto Mangunkusumo Hospital.
Methods This was a descriptive study on patients with red blood
cells membrane defect who came to the Thalassemia Center at
Cipto Mangunkusumo Hospital during 2002-2004.
Results In 2002-2004, there were 241 new cases of hemolytic
anemia consisted of 116 patients with beta-thalassemia, 109 with
HbE-beta thalassemia, 3 with alpha-thalassemia, and 13 with red
blood cells membrane defect. The red cells membrane defect pa-
tients consisted of 4 males and 9 females, ranging in age from 1
months to 14 years. All subjects came to the hospital due to pale-
ness as a chief compaint. Hepato-splenomegaly was found in 5 of
13 cases. Laboratory findings revealed hemoglobin level 6.4-13.1
g/dl (mean 9.4+2.1 g/dl), MCV 58.4-94.5 fl (mean 81.2+10.2 fl),
MCHC 31.7-35.8 g/dl (mean 33.9+1.1g/dl), RDW 15.8-28.4%
(mean 20.1+3.6%) and normal hemoglobin electrophoresis. Pe-
ripheral blood smear showed anisocytosis, poikilocytosis,
spherocytes, ovalocytes, stomatocytes, target cells, and fragmented
cells. The most common diagnosis in this group was Southeast
Asian Ovalocytosis (5/13).
Conclusions In facing hemolytic anemia with normal Hb electro-
phoresis or normal RBC enzyme level, the possibility of red cells
membrane defect should be taken into consideration as a cause
of this disorder. The clinical features and laboratory findings of red
blood cells membrane defect patients are highly variable. Occa-
sionally, hematologic investigations are necessary
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Tchernia G, Cynober T. Temporal differences in mem-
brane loss lead to distinct reticulocyte features in he-
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mia. Blood 2001;98:2894-9.
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Rohrlich P, Delaunay J, Mohandas N, et al. Natural
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Med J Indones 2004;13:8-16.
editor. Manual of pediatric hematology and oncology.
2nd ed. Livingstone; 1995. p. 97-152.
2. Meck M, Sills R, Sarnaik SA, Windle ML, Crouch
GD, Chan HSL, et al. Hereditary elliptocytosis and
related disorders. Available from: URL: http://
www.emedicine.com/ped/topic987.htm.
3. Gonzalez G, Eichner ER, Schick P, Talavera F, Sacher
RA, McKenna R, et al. Spherocytosis, hereditary. Avail-
able from: URL: http://www.emedicine.com/med/
topic2147.htm.
4. Liu SC, Jarolim P, Rubin HL, Palek J. The homozy-
gous state for the band 3 protein mutation in South-
east Asian ovalocytosis may be lethal. Blood
1994;84:3590-8.
5. Liu SC, Zhai S, Palek J, Golan DE, Amato D, Hassan
K, et al. Molecular defect of the band 3 protein in
Southeast Asian ovalocytosis. N Engl J Med 1990;23:
1530-8.
6. Liu SC, Palek J, Yi SJ, Nichols PE, Derick LH, Chiou
SS, et al. Molecular basis of altered blood cell mem-
brane properties in Southeast Asian ovalocytosis: Role
of the mutant band 3 protein in band 3 oligomeriza-
tion and retention by the membrane skeleton. Blood
1995;86:349-58.
7. Sarabia VE, Casey JR, Reithmeier RAF. Molecular
characterization of the band 3 protein from Southeast
Asian ovalocytes. J Biol Chem 1993;268:10676-80.
8. Kanki T, Young MT, Sakaguchi M, Hamasaki N, Tan-
ner MJA. The N-terminal region of the transmembrane
domain of human erythrocyte band 3. J Biol Chem
2003;278:5564-73.
9. Jarolim P, Palek J, Amato D, Hassan K, Sapak P, Nurse
GT, et al. Deletion in erythrocyte band 3 gene in ma-
laria-resistant Southeast Asian ovalocytosis. Proc Natl
Acad 1991;88:11022-6.
10. Gallagher PG, Forget BG, Lux SE. Disorders of the
Erytrocyte Membrane. In: Nathan DG, Orkin SH, edi-
tors. Nathan and Oski’s: Hematology of infancy and
childhood. 6th ed. Philadelphia: WB Saunders Co;
2003. p. 560-684.
11. Ravindranath Y, Goyette G, Johnson RM. Southeast
Asian ovalocytosis in an African-American family.
Blood 1994;84(8):2823-4.
12. Allen SJ, O’Donnell A, Alexander NDE, Mgone CS,
Peto TEA, Clegg JB, et al. Prevention of cerebral ma-
laria in children in Papua New Guinea by Southeast
Asian ovalocytosis band 3. Am J Trop Med Hyg
1999;60:1056-60.
13. Taufani R, Nainggolan I, Endjun JJ, Endjun AM,
Khresnamurti I, Wiknjosastro G, et al. Southeast Asian
ovalocytosis homozygote case manifest as intrauterine
fetal death. Eijkman Institute for Molecular Biology
2004. Unpublished data.
14. Coetzer TL, Beeton L, Van ZD, Field SP. Southeast
Asian ovalocytosis in a South African Kindred with
hemolytic anemia. Blood 1996;87(4):1656-7.
15. Oski FA, Brugnara C, Nathan DG. A diagnostic ap-
proach to the anemic patient. In: Nathan DG, Orkin
SH, editors. Nathan and Oski’s: Hematology of infancy
and childhood. 6th ed. Philadelphia: WB Saunders Co;
2003. p. 409-18.
16. Hassoun H, Vassiliadis JN, Murray J, Yi SJ, Hanspal M,
Johnson CA, et al. Hereditary spherocytosis with
spectrin deficiency due to an unstable truncated B
spectrin. Blood 1996;87:2538-45.
17. Hassoun H, Vassilidias JN, Murray J, Njolsatd PR,
Rogus JJ, Ballas SK, et al. Characterization of the un-
derlying molecular defect in hereditary spherocytosis
associated with spectrin deficiency. Blood 1997;90:
398-406.
18. Da Costa L, Mohandas N, Sorette M, Grange MJ,
Tchernia G, Cynober T. Temporal differences in mem-
brane loss lead to distinct reticulocyte features in he-
reditary spherocytosis and in immune hemolytic ane-
mia. Blood 2001;98:2894-9.
19. Delhommeau F, Cynober T, Schischmanoff PO,
Rohrlich P, Delaunay J, Mohandas N, et al. Natural
history of hereditary spherocytosis during the first year
of life. Blood 2000;95:393-7.
20. Bader-Meunier B, Gauthier F, Archambaud F, Cynober
T, Miélot F, Dommergues JP, et al. Long-term evalua-
tion of the beneficial effect of subtotal splenectomy for
mangement of hereditary spherocytosis. Blood
2001;97:399-403.
21. Wirawan R, Setiawan S, Gatot D. Peripheral blood and
hemoglobin electrophoresis pattern in beta thalassemia
major patients receiving repeated blood transfusion.
Med J Indones 2004;13:8-16.
Published
2016-10-18
How to Cite
1.
W P, Gatot D, Tjitrasari T, Setianingsih I, Marzuki N. Clinical features of patients with hemolytic anemia due to red blood cells membrane defect. PI [Internet]. 18Oct.2016 [cited 5Nov.2024];46(1):41-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/853
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Received 2016-10-10
Accepted 2016-10-10
Published 2016-10-18
Accepted 2016-10-10
Published 2016-10-18
