TREATMENT OF TWO JORDANIAN SIBLINGS WITH CONGENITAL
DYSERYTHROPOEITIC ANEMIA - TYPE 1B- USING INTERFERON-ALPHA-2A
Tahani Sarrawi1, Iyad Sultan1, Rawad Rihani1, Mayada Abu Shanap1, Hasan Hashem1, Fadia Al-
Sheab1 and Eman Khattab1
(1)King Hussein Cancer Center, Amman, Jordan
Background: Congenital dyserythropoietic anemias (CDAs) are a group of rare hereditary
congenital anemias characterized by marked ineffective erythropoiesis and characteristic
morphologic abnormalities of the erythroblasts. Three major types have been described
based on characteristic morphologic abnormalities of the erythroblasts, and the molecular
approach for the causative genes. CDA type 1 is inherited as autosomal recessive disorder
caused mainly by mutation in CDAN1 gene encoding the codanin-1 protein. More than 100
cases have been described, the severity of anemia varies considerably. Nonhematologic
dysmorphologies may be present. Therapy includes red-cell transfusion, iron chelation
therapy, interferon alpha (INF alpha) and allogenic stem cell transplantation.
Methods: We are reporting two transfusion dependent siblings diagnosed with CDA type 1,
including their treatment with IFN and outcome.
Results: We are reporting 2 boy siblings with CDA type 1 who were referred for bone marrow
transplantation at our center at the ages of 11 and 12 years. They have first-degree
consanguineous parents and were born with low birth weight (1677 gm and 1500 gram,
respectively) and have been transfusion dependent since birth. They were diagnosed using
genetic testing and were found to be homozygous at C150RF41, consistent with a diagnosis
of CDAN1B. They both had short stature and mild splenomegaly but no dysmorphism. Their
ferritin levels at time of referral was 1500 ng/ml and 1220 ng/ml respectively. Bone marrow
evaluation showed erythroid precursors are quantitatively increased. The erythroid
maturation is megaloblastoid and show binucleation in 10% to 15% of the erythroid cells.
Skeletal survey was normal, cardiac and ophthalmologic evaluation was normal. They were
started on interferon-Alfa-2a as one million unit weekly, with excellent response, no blood
transfusion requirement since starting therapy, and iron chelation has stopped. INF-alpha
dose was decreased to every 2 weeks after one year of therapy, with stable hemoglobin, both
patients has been receiving INF-alpha for more than 12 months, without toxicity. The yearly
cost of weekly interferon-alpha is 2,400 USD vs 100,000 USD for allogenic hematopoietic
transplant, in addition of the cost of post-transplant complications; GVHD viral reactivation,
etc. and the long-term side effect of stem cell transplantation and chemotherapy.
Conclusion: We report 2 Jordanian siblings with transfusion dependent CDA-1 caused a
homozygous mutation of C150RF41 gene. They both showed dramatic response to IFN-alpha-
2a which was maintained for at least one year with no toxicity.
POSTER 14
SCIENTIFIC PROGRAMME
SESSION I
BONE MARROW
RESPONSE TO VIRAL
INFECTIONS
SESSION II
HAEMATOLOGICAL
RESPONSE TO SARS
COV2 INFECTION
SESSION III
DYSERYTHROPOIESIS IN
CLONAL HAEMOPOIESIS
AND MDS
SESSION IV
ERYTHROPOIESIS
CONTROL
SESSION V
ERYTHROPOIESIS
CONTROL : PHASE 2
SESSION VI
IRON METABOLISM
AND ERYTHROPOIESIS
SESSION VII
INHERITED
DYSERYTHROPOIESIS
SESSION VIII
GENE THERAPY/EDITION
SESSION IX – DRUGS
AND INEFFECTIVE
ERYTHROPOIESIS
SELECTED ABSTRACTS
FOR AN ORAL
PRESENTATION
SELECTED ABSTRACTS
FOR A POSTER
PRESENTATION
FACULTY DISCLOSURES