Massive Splenomegaly in an Adult With a Hemoglobin Fractionation Pattern Suggestive of Hereditary Persistence of Fetal Hemoglobin: A Case Report.
5 affiliations
- 1Internal Medicine, All India Institute of Medical Sciences, Bibinagar, Bibinagar, IND.
- 2General Medicine, All India Institute of Medical Sciences, Bibinagar, Bibinagar, IND.
- 3Internal Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, IND.
- 4Radiodiagnosis, All India Institute of Medical Sciences, Bibinagar, Bibinagar, IND.
- 5Clinical Immunology and Rheumatology, ESIC Medical College and Hospital, Sanathnagar, Hyderabad, IND.
Abstract
Hereditary persistence of fetal hemoglobin (HPFH) is an inherited hemoglobin disorder characterized by continued fetal hemoglobin (HbF) production after infancy and is generally associated with a clinically benign phenotype. Significant splenic enlargement is unusual and should prompt evaluation for other hematological, infectious, vascular, and hepatic causes. We report a 42-year-old man who presented with left-sided abdominal pain and marked splenomegaly, with the spleen palpable approximately 10 cm below the left costal margin. His hemoglobin remained relatively preserved, ranging from 10.9 to 13.6 g/dL, with normal leukocyte counts and intermittent mild thrombocytopenia. The reticulocyte production index was 0.2%, and the overall evaluation did not support active hemolysis. Screening for autoimmune disease, viral infections, and common infectious causes was negative. Abdominal ultrasonography and contrast-enhanced computed tomography demonstrated massive splenomegaly, splenic vein dilatation, and secondary left-sided hydronephrosis from extrinsic compression, while portal venous Doppler showed no evidence of portal hypertension. Hemoglobin analysis by high-performance liquid chromatography revealed complete predominance of HbF (100%) with no detectable adult hemoglobin (HbA) or adult hemoglobin A2 (HbA2), a pattern consistent with an HPFH phenotype. Bone marrow biopsy demonstrated preserved trilineage hematopoiesis without evidence of a primary hematological malignancy. The patient was managed conservatively with supportive treatment and was advised hematology follow-up and family screening. This case is notable for the coexistence of massive splenomegaly and an HPFH phenotype in an adult with relatively preserved hemoglobin and no convincing evidence of hemolysis. It highlights the importance of hemoglobin fractionation in the evaluation of unexplained splenomegaly and emphasizes that an unusual hemoglobin profile should be interpreted alongside the clinical phenotype and appropriate exclusion of alternative causes. Recognition of this benign hemoglobin phenotype may help avoid unnecessary invasive interventions when other causes of splenomegaly have been adequately excluded.
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BibTeX
@article{rao2026massive,
title = {{Massive Splenomegaly in an Adult With a Hemoglobin Fractionation Pattern Suggestive of Hereditary Persistence of Fetal Hemoglobin: A Case Report.}},
author = {Dupati Madhusudan Rao and Vahini Golla and Sakthivadivel Varatharajan and Swarnalatha Seelam and Prasanth Raju},
journal = {Cureus},
year = {2026},
month = sep,
doi = {10.7759/cureus.116885},
url = {https://europepmc.org/article/MED/42928811},
note = {CC BY},
}
RIS
TY - JOUR
TI - Massive Splenomegaly in an Adult With a Hemoglobin Fractionation Pattern Suggestive of Hereditary Persistence of Fetal Hemoglobin: A Case Report.
AU - Dupati Madhusudan Rao
AU - Vahini Golla
AU - Sakthivadivel Varatharajan
AU - Swarnalatha Seelam
AU - Prasanth Raju
PY - 2026
DA - 2026/09/24
JO - Cureus
DO - 10.7759/cureus.116885
UR - https://europepmc.org/article/MED/42928811
AB - Hereditary persistence of fetal hemoglobin (HPFH) is an inherited hemoglobin disorder characterized by continued fetal hemoglobin (HbF) production after infancy and is generally associated with a clinically benign phenotype. Significant splenic enlargement is unusual and should prompt evaluation for other hematological, infectious, vascular, and hepatic causes. We report a 42-year-old man who presented with left-sided abdominal pain and marked splenomegaly, with the spleen palpable approximately 10 cm below the left costal margin. His hemoglobin remained relatively preserved, ranging from 10.9 to 13.6 g/dL, with normal leukocyte counts and intermittent mild thrombocytopenia. The reticulocyte production index was 0.2%, and the overall evaluation did not support active hemolysis. Screening for autoimmune disease, viral infections, and common infectious causes was negative. Abdominal ultrasonography and contrast-enhanced computed tomography demonstrated massive splenomegaly, splenic vein dilatation, and secondary left-sided hydronephrosis from extrinsic compression, while portal venous Doppler showed no evidence of portal hypertension. Hemoglobin analysis by high-performance liquid chromatography revealed complete predominance of HbF (100%) with no detectable adult hemoglobin (HbA) or adult hemoglobin A2 (HbA2), a pattern consistent with an HPFH phenotype. Bone marrow biopsy demonstrated preserved trilineage hematopoiesis without evidence of a primary hematological malignancy. The patient was managed conservatively with supportive treatment and was advised hematology follow-up and family screening. This case is notable for the coexistence of massive splenomegaly and an HPFH phenotype in an adult with relatively preserved hemoglobin and no convincing evidence of hemolysis. It highlights the importance of hemoglobin fractionation in the evaluation of unexplained splenomegaly and emphasizes that an unusual hemoglobin profile should be interpreted alongside the clinical phenotype and appropriate exclusion of alternative causes. Recognition of this benign hemoglobin phenotype may help avoid unnecessary invasive interventions when other causes of splenomegaly have been adequately excluded.
SN - 2168-8184
ER -