Evidence map›Paper›PMID 42291950›Full record

ArticleCureus2026

Compound Heterozygous Sickle Cell-Beta Thalassemia Presenting As Chronic Hemolytic Anemia With Microcytosis and Prominent Left Ventricular Trabeculation: A Case Report.

Vijay Krishnan Radhakrishnan, Aswanaa Kamanuru Govindarajulu, Thilakavathi N Rajendran, Janani Nabirajan, Suganya Balachandran

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In one paragraph

Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Vijay Krishnan RadhakrishnanInternal Medicine, Sri Lalithambigai Medical College and Hospital, Chennai, IND.
Aswanaa Kamanuru GovindarajuluInternal Medicine, Sri Lalithambigai Medical College and Hospital, Chennai, IND.
Thilakavathi N RajendranInternal Medicine, Sri Lalithambigai Medical College and Hospital, Chennai, IND.
Janani NabirajanInternal Medicine, Sri Lalithambigai Medical College and Hospital, Chennai, IND.
Suganya BalachandranInternal Medicine, Sri Lalithambigai Medical College and Hospital, Chennai, IND.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sickle cell-beta thalassemia, a compound heterozygous hemoglobinopathy, can be difficult to diagnose because clinical features and laboratory findings often overlap with other hematological disorders. We report a 26-year-old man from Assam who presented with eight days of progressive jaundice. Further evaluation revealed chronic hemolysis that had gone undiagnosed for years. He also reported one week of abdominal distension and generalized weakness. Clinical examination revealed pallor, icterus, and moderate splenomegaly. Laboratory evaluation demonstrated anemia (hemoglobin 6.3-7.9 g/dL), microcytosis, elevated lactate dehydrogenase, indirect hyperbilirubinemia, low serum haptoglobin, moderate splenomegaly and reticulocytosis, consistent with ongoing hemolysis. The direct Coombs test was negative, ruling out immune-mediated hemolysis. Infectious causes, including chronic malaria, were excluded, and serological tests for HIV, hepatitis B, and hepatitis C were negative. Blood and urine cultures showed no growth. Glucose-6-phosphate dehydrogenase (G6PD) levels and iron studies were within normal limits, excluding enzymopathy and iron deficiency. Hemoglobin analysis revealed hemoglobin S (HbS) 73.1%, fetal hemoglobin (HbF) 15%, hemoglobin A2 (HbA2) 6.3%, and reduced hemoglobin A (HbA), consistent with compound heterozygous sickle cell-beta thalassemia. Echocardiography demonstrated prominent left ventricular apical trabeculations, likely representing adaptive cardiac remodeling in response to a chronic high-output state. This case illustrates how systematic workup can identify compound hemoglobinopathies in patients with atypical presentations. The finding of HbS-β thalassemia in a patient from Assam is epidemiologically significant, as this compound hemoglobinopathy is extremely rare in this region, where HbE variants predominate. The cardiac findings might reflect cardiovascular changes from chronic, untreated anemia.

Indexed as

beta thalassemiahemoglobinopathyhemolytic anemialeft ventricular trabeculationmicrocytosissickle cell disease

Identifiers

PMID42291950
PMCPMC13262902

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