Work

Compound Heterozygosity for Hemoglobin S and Hemoglobin LuLu Island

Year: 2026

Type: article

Abstract: In the last year the patient has developed a rising erythrocyte sedimentation rate, peaking at 100 mm/h. Anti-nuclear antibody screen, rheumatoid factor, double stranded DNA antibodies as well as an extractable nuclear antigen (ENA) panel are all negative. She underwent magnetic resonance imaging of her right foot which demonstrated findings suggestive of non-specific inflammatory arthropathy involving the mid-foot with associated tendinopathy. Her younger sister, who has the same hemoglobin variant combination, is also developing joint problems. Hemoglobin Lulu Island is a rare beta chain variant that has been described in an East Indian individual [1] and in a Greek/Albanian family [2]. In the compound heterozygous state with beta thalassemia, it can lead to thalassemia intermedia. Our patient suggests that the compound heterozygous state with hemoglobin S can lead to a mild form of sickle cell disease. Sickle cell disease has previously been reported as a result of compound heterozygosity for hemoglobin S and other unstable hemoglobins, specifically hemoglobin New York [3] and hemoglobin La Desirade [4]. The authors declare no conflicts of interest. The data that support the findings of this study are available from the corresponding author upon reasonable request.

Source: American Journal of Hematology

DOI: 10.1002/ajh.70306

Authors: Dana Lewis, Thomas Lofaro, Laura Fraser, Sheana Wijemanne, Barbara J. Bain

Institutions: London North West Healthcare NHS Trust, St Mary's Hospital, Imperial College London

Language: English

Topic: Hemoglobinopathies and Related Disorders

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $5,450