Page 87 - Haematologica Vol. 107 - September 2022

ARTICLE - Inherited cytopenias in children
O. Gilad et al.
Haematologica | 107 September 2022
2086
Table 2. Clinical characteristics of patients referred with the diagnosis of inherited bone marrow failure syndrome (diagnosed by Sanger sequencing).
Ethnic origin/ Patient Consanguinity
Gene
Disease/ Inheritance
MHGVS Coding
Age at presentation/ diagnosis
Hematological presentation
BM, cytogenetics and functional tests
Extra hematological manifestations
Outcome
4118
Arab Muslim (+)
FANCA
FA/AR
NM_000135: c.3490C>T-Hm
6y/6y
Pancytopenia
Hypocellular marrow, re- duced megakaryocytes
Short stature, café au lait spots, pelvic kidneys
Post HSCT
4139
Arab Christian (-)
FANCA
FA/AR
NM_000135: c.4261-2A>C- Hm
1-7d/25y
Pancytopenia
Hypocellular marrow
Short stature, dysmorphic features
Post HSCT
4034
Arab Muslim (+)
FANCA
FA/AR
NM_000135.4): c.3382C>T-Hm
5y/5y
Pancytopenia
Hypocellular marrow, tri- somy 1q, increased chro- mosomal breakage
Short stature, dysmorphic features
Followup
3013
Jewish (+)
FANCA
FA/AR
NM_000135.4: c.3788_3790delTCT- Hm
2y/4.5y
Pancytopenia
Aplastic marrow
Short stature, dysmor- phic features, café au lait spots, skeletal anomalies
Died of SCC, post HSCT
3950
Arab Muslim (+)
FANCA
FA/AR
NM_000135.4: c.3788_3790delTCT- Hm
10y/10y
Pancytopenia
Hypocellular marrow, in- creased chromosomal breakage
None
Post HSCT
5295
Jewish (-)
FANCA
FA/AR
NM_000135.4: c.2172dupG- Hm
11y/15y
Pancytopenia
Hypocellular marrow, dyserythropoiesis, increased chromosomal breakage
Short stature, schizophrenia
Post HSCT
4528
4337
4335
4236
Jewish (-) Jewish (-) Other (-) Jewish (-)
RPS19 RPS19 RPS19 RPS19
DBA/AD DBA/AD DBA/AD DBA/AD
NM_001022.3: c.98G>A-Ht
1-7d/0.9y 8-28d/0.5y 1-7d/3y 0.2y/16y
Anemia Anemia Anemia Anemia
Not done
Short stature
Followup Followup Followup Followup
3449
Jewish (-)
RPS19
DBA/AD
NM_001022.3: c.134T>C-Ht
8-28d/0.9y
Anemia
Hypocellular marrow, early erythroid maturation arrest
Short stature, hearing defect
Followup
(+/-)
NM_001022.4): c.184C>T-Ht
Early erythroid matura- tion arrest
Short stature
NM_001022.4): c.184C>T-Ht
Hypocellular marrow, pure red cell aplasia
None
NM_001022.3: c.98G>A-Ht
Not done
None
BM: bone marrow; BMF: bone marrow failure; AR: autosomal recessive; AD: autosomal dominant; y: years; d: days; FA: Fanconi anemia; DBA: Diamond-Blackfan anemia; SCC: squamous cell carcinoma; Ht: heterozygous; Hm homozygous; HSCT: hematopoietic stem cell transplantation.