PMID- 35003970
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231105
IS  - 2168-8184 (Print)
IS  - 2168-8184 (Electronic)
IS  - 2168-8184 (Linking)
VI  - 13
IP  - 12
DP  - 2021 Dec
TI  - Hereditary Hemochromatosis Associated With Idiopathic Refractory Aplastic Anemia 
      in a Five-Year-Old Boy: A Case Report.
PG  - e20135
LID - 10.7759/cureus.20135 [doi]
LID - e20135
AB  - Hereditary hemochromatosis (HH) is a multisystem disease characterized by iron 
      overload and various clinical presentations, including cirrhosis, diabetes 
      mellitus, and heart failure. HH can be caused by the human homeostatic iron 
      regulator (HFE) and non-HFE gene mutations. Aplastic anemia is a rare, 
      life-threatening bone marrow failure in which fat replaces pluripotent stem 
      cells, resulting in pancytopenia and hypoplasia of bone marrow. We present a case 
      of a five-year-old-boy who initially presented with a large ecchymosis located at 
      the right side of the chest and abdomen. These started suddenly after minor 
      trauma. Later, he was diagnosed with idiopathic aplastic anemia and treated with 
      immunosuppressive therapy (IST). As part of the workup for pancytopenia, we 
      ordered whole exome sequencing (WES) and diagnosed the patient with autosomal 
      recessive hereditary hemochromatosis (ARHH). The ARHH is caused by HFE pathogenic 
      gene mutation variant (c.187C>G p homozygous genotype). After six months of IST, 
      he still had persistent disease. Human leukocyte antigen (HLA) typing showed he 
      has a sister who is a full match but also has ARHH. Because of this, a 
      haploidentical hematopoietic stem cell transplantation (hHSCT) from the father 
      was performed. The hHSCT had a successful outcome. We suggest that in children 
      with idiopathic aplastic anemia, physicians should be aware of the possibility of 
      co-existing hereditary hemochromatosis or secondary hemochromatosis. Serum 
      ferritin and transferrin saturation should also be measured regularly in order 
      to detect early hemochromatosis.
CI  - Copyright (c) 2021, Alharbi et al.
FAU - Alharbi, Ibrahim
AU  - Alharbi I
AD  - Pediatric Hematology Oncology, King Fahad Armed Forces Hospital, Jeddah, SAU.
AD  - Department of Pediatrics, Umm Al-Qura University, Makkah, SAU.
FAU - Bahakim, Abdullah K
AU  - Bahakim AK
AD  - Medicine and Surgery, Umm Al-Qura University, Makkah, SAU.
FAU - Alharthi, Sanad M
AU  - Alharthi SM
AD  - Medicine and Surgery, Umm Al-Qura University, Makkah, SAU.
FAU - Alharthi, Saad M
AU  - Alharthi SM
AD  - Medicine and Surgery, Umm Al-Qura University, Makkah, SAU.
FAU - Baabdullah, Abdulrahman A
AU  - Baabdullah AA
AD  - Medicine and Surgery, Umm Al-Qura University, Makkah, SAU.
LA  - eng
PT  - Case Reports
DEP - 20211203
PL  - United States
TA  - Cureus
JT  - Cureus
JID - 101596737
PMC - PMC8723724
OTO - NOTNLM
OT  - aplastic anemia
OT  - bone marrow failure
OT  - hereditary hemochromatosis
OT  - iron overload
OT  - pancytopenia
COIS- The authors have declared that no competing interests exist.
EDAT- 2022/01/11 06:00
MHDA- 2022/01/11 06:01
PMCR- 2021/12/03
CRDT- 2022/01/10 09:20
PHST- 2021/12/03 00:00 [accepted]
PHST- 2022/01/10 09:20 [entrez]
PHST- 2022/01/11 06:00 [pubmed]
PHST- 2022/01/11 06:01 [medline]
PHST- 2021/12/03 00:00 [pmc-release]
AID - 10.7759/cureus.20135 [doi]
PST - epublish
SO  - Cureus. 2021 Dec 3;13(12):e20135. doi: 10.7759/cureus.20135. eCollection 2021 
      Dec.