Page 945 - Williams Hematology ( PDFDrive )

920 Part VI: The Erythrocyte Chapter 59: Polyclonal and Hereditary Sideroblastic Anemias 921

developed progressive macrocytic anemia, thrombocytopenia, and leu- TREATMENT
kopenia with ringed sideroblasts after gastroduodenal bypass (Billroth
II procedure). This patient also had optic neuritis and other neurologic Many patients with hereditary sideroblastic anemia have some response
abnormalities. The hematologic abnormalities, but not neurologic to treatment with pyridoxine in doses of 50 to 200 mg/day, 12,127,131,136,139–141
121
defects, resolved fully with copper therapy. Since that time numerous but failures have also been observed. 8,35,42 Some patients have responded
similar cases, with and without neurologic abnormalities, have been to doses as low as 2.5 mg/day. An additional effect may be achieved
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reported. 122,123 A similar hematologic picture can be seen with zinc- by the administration of folic acid. Very rarely, patients have been
127
induced copper deficiency. 124,125 reported to respond to a crude liver extract, and tryptophan may be
an active principle, enhancing the effect of pyridoxine. 142,143 Responses
HEREDITARY SIDEROBLASTIC ANEMIA to pyridoxine may result in an increase in the steady-state hemoglo-
Hereditary sideroblastic anemia is very uncommon. More instances bin level of the blood or a decrease in the transfusion requirement, but
of the X-chromosome linked varieties than of apparently autosomally normalization of the hemoglobin level does not usually occur and the
inherited cases have been documented. The disorder is heteroge- anemia relapses when pyridoxine administration is discontinued.
126
neous. The variant with ataxia is characterized by neurologic impair- Iron overloading regularly accompanies this disorder and may be
41
ment and typically mild anemia in males. The neurologic symptoms the cause of death (Chap. 43). Iron storage may be enhanced when
144
include ataxia, dysmetria, dysdiadochokinesis, dysarthria, and inten- any of the mutations of hereditary hemochromatosis are coinherited.
tion tremor that are referred to as spinocerebellar syndrome. A mild If the anemia is not too severe or if it can be partially corrected by the
intellectual impairment may be also seen. administration of pyridoxine, phlebotomy may be used to diminish the
In some of the cases of hereditary iron-loading anemia that are iron burden. 145,146 Otherwise, it may be advisable to attempt to decrease
cited below, the presence of the sideroblasts in the marrow or the hered- the amount of body iron by iron chelation (Chap. 43).
147
148
itary nature of the disorder is documented, whereas in others it is pre- Marrow transplantation, both ablative and nonmyeloblative,
sumed but not clearly documented. has been used on rare occasions to treat patients with severe hereditary
Anemia is usually apparent during the first few months or sideroblastic anemia.
127
years 35,37 of life; it may even occur prenatally. However, there are
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patients in whom microcytic anemia first became evident in the eighth
and ninth decade of life and were found to have a microcytic, pyridox- REFERENCES
ine response anemia apparently related to inherited mutations of the 1. Kardos G, Veerman AJ, de Waal FC, et al: Familial sideroblastic anemia with emergence
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degree of anisocytosis and poikilocytosis is usually striking. Sometimes 7. Heilmeyer L, Emmrich J, Hennemann HH, et al: [Chronic hypochromic anemia in two
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the anemia can be macrocytic, 2,134 especially in mitochondrial forms of hereditaria)] [in German]. Folia Haematol (Frankf) 2(1):61–75, 1958.
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increased and decreased resistance to lysis are present. 35,135 The white 9. Bernard J, Lortholary P, Levy JP, et al: [Primary sideroblastic normochromic anemia]
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present in most cases. In one family, a platelet function abnormality 11. Cooley TB: A severe type of hereditary anemia with elliptocytosis. Interesting sequence
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