Portada Simposios - Supplements - Haematologica

XLII Reunión Nacional de la AEHH y XVI Congreso de la SETH. Simposios
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Table 1. Classification and distinguishing features of Congenital Dyserythropoietic Anemias (CDAs)
Type Clinical features Morphology Inheritance
I
Anemia with neonatal
appearance; jaundice,
splenomegaly; rare syndactyly
Common complication:
hemochromatosis
Anemia; jaundice; splenomagaly
Hemochromatosis
Gallstones
Anemia mild to moderate;
jaundice
Gammopathy
Severe or transfusion-dependent
anemia with neonatal
or infant appearance
Megaloblastoid erythroid
hyperplasia; nuclear bridges.
ME: spongy-appearing nuclei
and invagination of the
cytoplasm in the nucleus
2-4 nucleated late erythroblasts
Karyorrhexis
Auto-recessive
Locus: 15q15.1-15.3
II
Auto-recessive
20q11.2
III
Giant multinucleated
erythroblasts
Dominant
15q22
IV
Marked normoblastic erythroid
hyperplasia with a slight
to moderate increase in the
proportion of erythroblasts
with very irregular or
karyorrhectic nuclei.
ME: Absence of precipitated
protein within erythroblasts
Marked normoblastic/slightly
megaloblastic erythroid
hyperplasia with little or no
erythroid dysplasia
Erythroid hyperplasia with
vitamin B 12 -and
folate-independent florid
megaloblastic erythropoiesis
Severe normoblastic erythroid
hyperplasia with marked
abnormalities in nuclear
shape in many erythroblasts
ME: Intraerythroblastic
inclusions resembling
precipitated -or -globin
chains
Recessive
V
Low grade anemia
Jaundice with predominantly
unconjugated
hyperbilirubinaemia
Normal or near-normal Hb with
Marked macrocytosis
Autosomal dominant or recessive
VI
Unknown
VII
Severe anemia with neonatal
appearance and transfusion
dependence
Splenomegaly
Normal MCV
Recessive (probably)
morphological abnormalities of the majority of
erythroblasts in the bone marrow. Although a few
reports had been published under various terms before,
the first by Sansone from Genoa in 1949 2 , it
was H. Heimpel that introduced this term in 1966,
when he observed a pair of nonidentical 16 year old
twin sisters with macrocytic anemia since early childhood,
moderate splenomegaly and all laboratory
findings of ineffective erythropoiesis. In the bone
marrow, there was excessive erythroid hyperplasia
with unusual morphological changes of almost all
erythroblasts 3 .
Heimpel proposed to preliminary classify these
disorders into three types. These first classical types
(I-III) differ in bone marrow erithroid morphology as
well in the inheritance pattern (table 1).
This classification since its appearance showed its
limitated applicability and in fact there were some
dyserythropoiesis that not fulfilled these strict diagnostic
criteria causing the appearance of new groups
(groups IV-VII). In the Wickramasinghe studies 4
approximately one third of dyserytropoietic anemias
are types other than I-III. Recently he identifies four
additive groups reported in table 1. However it is noteworthy
that each group may be genetically heterogeneous
and that the group is proposed on the basis
of the common phenotypic appearance.
CDA-I
The clinical picture of CDA-I was quite variable.
The age at diagnosis varied from birth to early adulthood.
Tamary observed the largest group of these
patients (mainly of bedouin origin) and she demonstrated
that the vast majority of the them with
CDA type I were symptomatic during the neonatal
period. Their manifestations included anemia, early
jaundice, hepatosplenomegaly and cardiac manifestations.
No bone abnormality was observed out of