MTPC-137 HEMATOLOGY LECTURE

CASE STUDY
“Rare congenital Dyserythropoietic anemia of
childhood”
Al Hussien, Hamzeh F; Al-Ekeer, Basil N; Hashem
Abu Serhan; Haddadin, Issam; Nashwan, Abdulqadir
J.

BY: JOE-ALI G. MANAMPAN

 MEDICAL TECHNOLOGY DEPARTMENT
NOTRE DAME OF MARBEL UNIVERSITY
City of Koronadal, South Cotabato
Telephone No.: (+63 83) 228 2218; 228 2377 loc 129 Email Address: medtech@ndmu.edu.ph
Facebook: @ndmumtdept www.ndmu.edu.ph

TABLE OF CONTENT

1. SUMMARY ……………………………………………………………………………….

2. INTRODUCTION …………………………………………………………………………

3. CASE PRESENTATION ………………………………………………………………..

4. CASE ANALYSIS ……………………………………………………………………….

5. CASE RECOMMENDATION …………………………………………………………..

6. CONCLUSION …………………………………………………………………………...

7. REFERENCES…………………………………………………………………………...
 MEDICAL TECHNOLOGY DEPARTMENT
NOTRE DAME OF MARBEL UNIVERSITY
City of Koronadal, South Cotabato
Telephone No.: (+63 83) 228 2218; 228 2377 loc 129 Email Address: medtech@ndmu.edu.ph
Facebook: @ndmumtdept www.ndmu.edu.ph

“RARE CONGENITAL DYSERYTHROPOIETIC ANEMIA OF CHILDHOOD”

CASE SUMMARY

Congenital dyserythropoietic anemias (CDA) are a diverse group of anemias

characterized by different levels of inefficient erythropoiesis and secondary

hemochromatosis. They presented a case of CDA and demonstrated the

technique to diagnosis, emphasizing the importance of the usual

morphological appearance of bone marrow erythroblasts in making the

diagnosis.

INTRODUCTION

Congenital dyserythropoietic anemia (CDA) with online mendelian inheritance in man (OMIM

entry: 224100) is an uncommon hematological condition reported primarily in Central and

Western Europe and North Africa.1-3 The disease's main feature is ineffective erythropoiesis,

and there are distinct morphological abnormalities of the bone marrow's erythroblasts. The

prevalence of CDA is estimated to be 1-2 cases per 100,000 people. CDAs are typically

classified into two broad categories: those with dyserythropoiesis alone (CDA types I-VI) and

those with dyserythropoiesis and associated neurological features (CDA types VII-XI). As a

result, it should be explored in any patient with persistent anemia. It is classified into three types

(CDA I, CDA II, and CDA III), with type II being the most common and type III being the rarest.
 MEDICAL TECHNOLOGY DEPARTMENT
NOTRE DAME OF MARBEL UNIVERSITY
City of Koronadal, South Cotabato
Telephone No.: (+63 83) 228 2218; 228 2377 loc 129 Email Address: medtech@ndmu.edu.ph
Facebook: @ndmumtdept www.ndmu.edu.ph
There is no cure for CDA-I, but treatment is aimed at managing the symptoms and

complications of the disease. This may include blood transfusions, iron chelation therapy, and

erythropoietin-stimulating agents. Some patients with CDA-I may respond to treatment with

interferon-alpha.

The majority of CDA instances are autosomal recessive. 4 In their case, they demonstrated how

they arrived at in the diagnosis and how the normal morphological appearance of bone marrow

erythroblasts is taken into account.

CASE PRESENTATION

A 6-year-old girl child presented for examination with chronic anemia. She was doing well until

the age of three, when her mother noticed a slow and growing pallor. It was linked to tiredness

and intolerance to exercise, as well as palpitations. Since then, the patient has been managed

as a case of hemolytic anemia, with frequent blood transfusions every three months.

The patient was born vaginally, at term, with no neonatal intensive care unit (NICU) admission.

Before the age of three, the patient had two previous stays for chest infections. The patient had

hip developmental dysplasia (DDH). The patient is of Hispanic descent from Jordan. The

parents are first-degree relatives. The patient has one younger healthy sister. No family history

of chronic illnesses or splenectomy. On examination, the patient had frontal bossing and mild

maxillary hypertrophy with depression of the nasal bridge. The spleen was felt 6 cm below the

costal margin.

Table 1: Basic laboratory result of the patient

 MEDICAL TECHNOLOGY DEPARTMENT
NOTRE DAME OF MARBEL UNIVERSITY
City of Koronadal, South Cotabato
Telephone No.: (+63 83) 228 2218; 228 2377 loc 129 Email Address: medtech@ndmu.edu.ph
Facebook: @ndmumtdept www.ndmu.edu.ph

CASE ANALYSIS

According to the case report the table show that the peripheral blood film revealed

normochromic macrocytic red blood cells, polychromasia, and binucleated erythroid. The

patient's bone marrow smears showed hypercellularity due to erythroid hyperplasia, with a 6:1

myeloid/erythroid ratio. The biopsy was not significant enough to confirm the diagnosis of CDA,

but it excluded other differential diagnoses. The bone marrow aspirate and laboratory results

confirmed the diagnosis of congenital dyserythropoietic anemia type II. Management continued

with monitoring the HB/PCV ratio, Ferritin, and blood transfusions. Stated in the article the

family refused the genetic study.

CASE RECOMMENDATION

Congenital dyserythropoietic anemia (CDA) is a rare hematological condition primarily

found in Central and Western Europe and North Africa. It is characterized by ineffective

erythropoiesis and distinct morphological abnormalities of bone marrow erythroblasts. CDAs are

classified into three types: CDA I, CDA II, and CDA III, with CDA I and CDA II being autosomal

recessive and CDA III and CDA IV being autosomal dominant. Diagnosis is often delayed, and

evidence of ineffective erythropoiesis is necessary.

The erythroblasts' characteristic morphology is considered the key to diagnosis. Ineffective

erythropoiesis should be suspected if there is inadequate reticulocytosis to the degree of

 MEDICAL TECHNOLOGY DEPARTMENT
NOTRE DAME OF MARBEL UNIVERSITY
City of Koronadal, South Cotabato
Telephone No.: (+63 83) 228 2218; 228 2377 loc 129 Email Address: medtech@ndmu.edu.ph
Facebook: @ndmumtdept www.ndmu.edu.ph
anemia despite erythroid hyperplasia. CDA I can be diagnosed with great specificity using light

microscopy, while CDA II requires a mutation of the CDAN1-gene and/or typical aberrations

seen by electron microscopy. Different CDA diagnoses include thalassemia syndromes,

hemoglobinopathies, hereditary sideroblastic anemia,

congenital myelodysplasia, and congenital anemia such as Blackfan-Diamond anemia and

Fanconi anemia.

A rare congenital dyserythropoietic anemia of children (CDA) is a set of illnesses defined

by inefficient erythropoiesis, resulting in a red blood cell deficit. Given the condition's complexity

and rarity, a comprehensive and multidisciplinary approach to diagnosis, care, and patient

support is necessary.

 Clinical Evaluation:

Conduct a comprehensive clinical evaluation, which includes a detailed medical history,

physical examination, and family history. Symptoms such as anemia, jaundice, fatigue,

and any other clinical manifestations should be documented. A systematic approach to

assessing the patient's medical history, symptoms, physical examination findings, and

laboratory results is used in the clinical evaluation of rare congenital dyserythropoietic

anemia of childhood. Because rare congenital dyserythropoietic anemias encompass a

diverse group of disorders, the evaluation aims to establish a precise diagnosis and

guide appropriate management.

 Genetic Analysis:
 MEDICAL TECHNOLOGY DEPARTMENT
NOTRE DAME OF MARBEL UNIVERSITY
City of Koronadal, South Cotabato
Telephone No.: (+63 83) 228 2218; 228 2377 loc 129 Email Address: medtech@ndmu.edu.ph
Facebook: @ndmumtdept www.ndmu.edu.ph
Because dyserythropoietic anemia is congenital, consider genetic testing to identify

specific mutations associated with the disorder. This could include either targeted gene

sequencing or whole-exome sequencing. Because these conditions are frequently

caused by genetic mutations affecting genes involved in nerythropoiesis, genetic

analysis is critical in diagnosing rare congenital dyserythropoietic anemia of childhood

(CDA).

 Opportunities for Research:

Encourage people to take part in research studies or clinical trials to better

understand rare congenital dyserythropoietic anemia and to test potential new

treatments. Rare congenital dyserythropoietic anemia of childhood (CDA)

research opportunities are critical for furthering our understanding of the disease,

improving diagnostic methods, and developing more effective treatment

strategies.

Here are several potential research avenues:

o Identification of Diagnostic Biomarkers

o Identification of Novel Genes

o Elucidating Molecular Mechanisms

CONCLUTION

In conclusion, any child with chronic anemia, hepatosplenomegaly, evidence of extramedullary

hematopoiesis, and characteristics of erythroid hyperplasia and dyserythropoiesis in bone

marrow aspirate studies should be evaluated for congenital dyserythropoietic anemia. The

diagnosis can be made with high precision using bone marrow aspirate analysis and peripheral
 MEDICAL TECHNOLOGY DEPARTMENT
NOTRE DAME OF MARBEL UNIVERSITY
City of Koronadal, South Cotabato
Telephone No.: (+63 83) 228 2218; 228 2377 loc 129 Email Address: medtech@ndmu.edu.ph
Facebook: @ndmumtdept www.ndmu.edu.ph
blood smear analysis. Furthermore, rare congenital dyserythropoietic anemia of childhood

(CDA) is a complex genetic disorder causing red blood cell deficiency. Clinical evaluation

involves medical history, symptoms, and genetic analysis. Research is ongoing to identify novel

genes and develop targeted therapies. Patient registries, epidemiological studies, and

educational initiatives help raise awareness and support individuals affected by CDA. A patient-

centered approach, integrating psychosocial support and ethical considerations, is crucial for

addressing the holistic needs of individuals with this rare genetic disorder.

REFERENCES