Congenital dyserythropoietic anemia (CDA) is a rare blood disorder characterized by ineffective red blood cell production. There are four main types of CDA, each caused by mutations in different genes. CDA Type I is caused by mutations in the CDAN1 gene and results in moderate to severe anemia diagnosed in childhood. CDA Type II is caused by mutations in the SEC23B gene and can range from mild to severe anemia diagnosed in adolescence. CDA Type III is dominantly inherited and caused by mutations in the KIF23 gene, resulting in milder anemia than other types. CDA Type IV is dominantly inherited and caused by mutations in the KLF1 gene

1. HEMOGLOBINOPATHY-congenital
dyserythropoetic anemia
Presented by-
Name - Lalhruaizeli kawlni
R/no. - 25

2.  Hemoglobinopathy is a kind of genetic defect
that results in abnormal structure of one of
the globin chains of the hemoglobin molecule
 Hemoglobinopathies are inherited single-gene
disorders; in most cases, they are inherited as
autosomal co-dominant traits.Common
hemoglobinopathies include sickle-cell disease
 Hemoglobinopathies are most common in
ethnic populations from Africa, the
Mediterranean basin and Southeast Asia

3.  Thalassemias, in contrast, usually result in
underproduction of normal globin proteins,
often through mutations in regulatory genes
 Either hemoglobinopathy or thalassemia, or
both, may cause anemia. Some well-known
hemoglobin variants such as sickle-cell
anemia and congenital dyserythropoietic
anemia are responsible for diseases, and are
considered hemoglobinopathies

4.  CDA is a rare blood disorder, similar to the
thalassemias
 CDA is one of many types of anemia,
characterized by ineffective erythropoiesis,
and resulting from a decrease in the number
of red blood cells (RBCs) in the body and a
less than normal quantity of hemoglobin in
the blood

5.  This shortage prevents the blood from
carrying an adequate supply of oxygen to the
body's tissues, resulting in various symptoms
of anemia including: tiredness (fatigue),
weakness, pale skin, and other similar
complications

6.  CDA may be transmitted by both parents
autosomal recessively or dominantly and has
over four different subtypes, butCDAType
I, CDAType II, CDAType III, and CDAType
IV are the most common. CDA type II (CDA II)
is the most frequent type of congenital
dyserythropoietic anemias

7. CDA I is a disorder of blood cell production,
particularly of the production of
erythroblasts, which are the precursors of the
red blood cells (RBCs)

8.  CDA type I is transmitted by both parents
autosomal recessively and usually results
from mutations in the CDAN1 gene
 Type - CDAN1
 OMIM - 224120
 Gene - CDAN1
 Locus - 15q15

9.  CDA I is characterized by moderate to severe
anemia. It is usually diagnosed in childhood
or adolescence, although in some cases, the
condition can be detected before birth
 CDA type I are born with skeletal
abnormalities, most often involving the
fingers and/or toes

10.  Many affected individuals have yellowing of
the skin and eyes (jaundice) and an enlarged
liver and spleen (hepatosplenomegaly).This
condition also causes the body to absorb too
much iron, which builds up and can damage
tissues and organ

11.  CDA II,or HEMPAS is a rare genetic anemia in
humans characterized by hereditary
erythroblastic multinuclearity with positive
acidified serum lysis test

12.  CDA type II is caused by mutations in the
SEC23B gene.This gene provides instructions for
making a protein that is involved in the transport
of other proteins within cells. During the
development of red blood cells, this protein may
help ensure that proteins are transported to the
areas where they are needed
 Type - CDAN2
 OMIM - 224100
 Gene - SEC23B
 Locus - 20p11.2

13.  CDA type II can range from mild to severe, and
most affected individuals have jaundice,
hepatosplenomegaly, and the formation of hard
deposits in the gallbladder called bilirubin
gallstones
 This form of the disorder is usually diagnosed in
adolescence or early adulthood. An abnormal
buildup of iron typically occurs after age 20,
leading to complications including heart disease,
diabetes, and cirrhosis

14.  CDA III is a rare autosomal dominant disorder
characterized by macrocytic anemia, bone
marrow erythroid hyperplasia and giant
multlnucleate erythroblasts.New evidence
suggests that this may be passed on
recessively as well.

15.  CDA type III is transmitted autosomal
dominantly.The genetic cause of CDA type III
is known to be a problem with the KIF23
gene, located on the long arm of
chromosome 15 at a position designated
15q21.
 Type - CDAN3
 OMIM – 105600
 Gene - KIF23
 Locus - 15q21

16.  CDA type III tend to be milder than those of the
other types. Most affected individuals do not
have hepatosplenomegaly, and iron does not
build up in tissues and organs.
 In adulthood, abnormalities of a specialized
tissue at the back of the eye (the retina) can
cause vision impairment.
 CDA type III also have a blood disorder known as
monoclonal gammopathy, which can lead to a
cancer of white blood cells (multiple myeloma)

17.  CDA IV has been described with typical
morphologic features of CDA II but a negative
acidified-serum test
 Congenital dyserythropoietic anemia type IV
is an autosomal dominant inherited red blood
cell disorder characterized by ineffective
erythropoiesis and hemolysis resulting in
anemia

18.  Affected individuals with CDAN4 also have
increased levels of fetal hemoglobin.
 Type - CDAN4
 OMIM – 613673
 Gene - KLF1
 Locus - 19p13.13-p13.12

19.  CDA type IV is characterized by mild to
moderate splenegomegaly. Hemoglobin is
very low and patients are transfusion
dependent. MCV is normal or mildly elevated.
 Erythropoiesis is normoblastic or mildly to
moderately megaloblastic. Nonspecific
erythroblast dysplasia is present.

20.  Treatment consists of frequent blood
transfusions and chelation therapy
 Bone marrow transplant and gene
therapy are the only known cures for the
disorder, but each have their own risks at this
point in time. Bone marrow transplantation is
the more established cure, as it has been
proven to work in human subjects

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