A case of Fanconi anemia

Jencia¹*, Flora², Subathra Devi. M³, Maha Lakshmi⁴

¹Nursing supervisor, Haematology Department, Kauvery Hospital, Cantonment, Trichy, Tamil Nadu

²ANS, Kauvery Hospital, Cantonment, Trichy, Tamil Nadu

³Nurse Educator, Kauvery Hospital, Cantonment, Trichy, Tamil Nadu

⁴Nursing Superintendent, Kauvery Hospital, Cantonment, Trichy, Tamil Nadu

*Correspondence

Abstract

An 18-year-old female with Fanconi anemia due to a FANCA mutation presented with pancytopenia and was initially treated with danazol. Her father was identified as a haploidentical donor with a 6/12 HLA match. She received Flu-Cy-ATG conditioning followed by peripheral blood stem cell transplantation with a CD34+ cell dose of 6.13 × 10⁶/kg. GVHD prophylaxis was given with post-transplant cyclophosphamide and cyclosporine. The post-transplant period was complicated by Grade II mucositis and febrile neutropenia, which were managed with supportive care and antibiotics. She required blood component support and recovered well. She was discharged in stable condition with regular follow-up. This case highlights the successful use of haploidentical HSCT in Fanconi anemia with appropriate supportive care.

Key words: Fanconi anemia; Hematopoietic Stem Cell Transplantation (HSCT); FANCA mutation

Introduction

Fanconi anemia (FA) is a rare inherited disorder that affects the bone marrow and causes progressive reduction of blood cells. It may also be associated with congenital abnormalities and an increased risk of cancer. Hematopoietic Stem Cell Transplantation (HSCT) is the only curative treatment for bone marrow failure. When a fully matched donor is not available, a haploidentical donor, such as a parent, can be considered. This case describes an 18-year-old female with FA who successfully underwent haploidentical stem cell transplantation from her father.

Case Presentation

An 18-year-old-female was admitted with a diagnosis of Fanconi anaemia (inherited bone marrow failure syndrome) for matched haloperidol peripheral blood stem cell transplantation. She was diagnosed with Fanconi anemia in May 2026 and was identified as the donor after HLA matching and DSA testing was negative.

She was admitted for conditioning therapy followed by allogenic peripheral blood stem-cell transplantation. During hospitalization she developed febrile neutropenia and grade 2 mucositis, which were managed appropriately.

Social History: He does not have any social history of cigarette smoking, alcohol addiction.

Allergies: No known medicine or environmental allergies

Past Medical History

Fanconi anaemia / inherited bone marrow failure syndrome
Hypothyroidism
Right leg cellulites – resolved

Physical Examination

Vital signs

Temp	98-degree Fahrenheit
HR	112/min
RR	28/min
BP	100/60 mmHg
Spo2	99%
Neurological examination	Patient conscious and oriented.

Investigations

Haemoglobin	9.0	7.7
Packed cell volume	24.6	21.2
Total WBC count	10	220
Neutrophil	0	45.5
Absolute neutrophil count (ANC)	0	100
Platelet count	46000	37000
Creatinine	0.4	0.5
Potassium	3.7	4.1
Sodium	134	136
Blood grouping	AB positive
Blood culture	No growth	No growth

Diagnosis

Management: Antibiotics – Broad-spectrum IV antibiotics (Meropenem, Levofloxacin)

Supportive Care

Fluid management – Iv fluid and electrolyte correction given
Blood and platelet transfusions.
Mucositis was managed with opioid, antiemetic, proton – pump inhibitors and hydration.

Definitive Treatment

Conditioning regimen – Flu-Cy-ATG protocol;

Fludarabine
Cyclophosphamide
Thymoglobulin

08/08/2026: Peripheral blood stem cells were harvested with a CD34 dose 6.13×10 /kg.

09/08/2026: Patient received 250ml peripheral blood stem cells with CD34 dose 6.13×10 /kg.

GVHD prophylaxis:

Cyclophosphamide
Cyclosporine

Two doses of cyclophosphamide were given on Day+3 and Day+4 according to protocol.

Cyclosporine was started from Day+5 with therapeutic through level monitoring.

Engraftment:

Neutrophil engraftment: Day+12
Platelet engraftment: Day+12

Outcome

During hospitalization, she developed febrile neutropenia and Grade 2 mucositis, which were successfully managed with antimicrobial therapy, supportive care, hydration and symptomatic treatment. Neutrophil and platelet engraftment occurred on Day + 12. Her general condition improved, oral intake became adequate and she was discharged in a stable condition on Day + 15.

Skilled Nursing Care Plan

Hourly monitored temperature, BP, HR, RR, and SpO₂. Regular GCS assessment for altered sensorium.
Monitored urine output, intake/output and renal parameters
Regularly monitor CBC, especially WBC, neutrophil, ANC, HB, platelet count, renal function test, liver function test, electrolytes, magnesium and other investigations as ordered.
Administered prescribed antibiotics on time.
Administered IV fluids and blood products according to prescription.
Administered immunosuppressive therapy such as CYCLOSPORINE as prescribed.
Maintained strict aseptic technique during all procedures Perform proper hand hygiene.
Followed protective/isolation precautions as indicated because of neutropenia.
Maintained central/IV line care, monitored IV and catheter sites for signs of infection.
Provided regular mouth care and monitored mucositis .
Encouraged adequate nutritional intake according to intolerance.
Verified blood products and monitor for transfusions reaction.
Provide reassurance and emotional support to the patient and family.
Used of side rails, bed alarms for altered sensorium.
Educated the patient and family regarding infection prevention.
Provided emotional and psychological support.

Discharge medications

1	Cap.Cyclosporine	100 Mg
2	Cap. Fluconazole A/D	200 Mg
3	Tab.Thyroxine	25 Mcg
4	Tab. Pentids	400 Mg

Regular follow up, medication adherence, infection prevention and monitoring for GVHD and other transplant related complications are essential for successful long term recovery.
Regular chemotherapy cycles.

Discussion

Fanconi anemia is a rare disorder that causes low blood counts due to bone marrow failure. HSCT is a curative treatment for severe cases. In this patient, her father was used as a haploidentical donor because a fully matched donor was not available. She received conditioning treatment followed by stem cell transplantation. After transplantation, she developed Grade II mucositis and fever with low blood counts, which were treated with medicines and supportive care. She also received blood transfusions when needed. The patient improved well and was discharged in stable condition. This case shows that haploidentical HSCT can be successfully performed in Fanconi anemia with proper care and monitoring.

Conclusion

The case represents an 18-year-old female with Fanconi anaemia (Inherited bone marrow failure syndrome) who underwent matched haploidentical peripheral blood stem cell transplantation from her father. She received conditioning with the Flu- Cy- ATG protocol, followed by stem cell infusion and GVHD prophylaxis with cyclophosphamide and cyclosporine.

A case of Fanconi anemia

A case of Fanconi anemia

Jencia1*, Flora2, Subathra Devi. M3, Maha Lakshmi4

Nightingale Journals

Jencia¹*, Flora², Subathra Devi. M³, Maha Lakshmi⁴