|Year : 2020 | Volume
| Issue : 1 | Page : 22-23
Systemic lupus erythematosus and beta-thalassemia trait
M Narayana Swamy, TA Shilpa, Stephen Benny
Department of General Medicine, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India
|Date of Submission||04-Aug-2018|
|Date of Acceptance||01-Jun-2019|
|Date of Web Publication||14-Jan-2020|
Dr. T A Shilpa
Bengaluru Medical College and Research Institute, Bengaluru, Karnataka
Source of Support: None, Conflict of Interest: None
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease that predominantly affects women of child-bearing age. The prevalence of beta-thalassemia in patients with SLE is lesser than the general population. When these two conditions coexist, however, SLE seems to have a more severe course. The following case report deals with a 34-year-old female who presented with severe dimorphic anemia and a positive direct Coombs test. On further evaluation, she was diagnosed with SLE based on a positive antineutrophilic antibody report and anti-Smith antibodies. A hemoglobin (Hb) electrophoresis was ordered for in view of the normal iron profile which revealed beta-thalassemia trait. An improvement in Hb and platelet counts was noted after initiating steroids. Although most hematological abnormalities are due to the disease (SLE) itself, it is important to remember that other causes such as thalassemia may coexist.
Keywords: Beta-thalassemia trait, coombs test, dimorphic anemia, systemic lupus erythematosus
|How to cite this article:|
Swamy M N, Shilpa T A, Benny S. Systemic lupus erythematosus and beta-thalassemia trait. APIK J Int Med 2020;8:22-3
|How to cite this URL:|
Swamy M N, Shilpa T A, Benny S. Systemic lupus erythematosus and beta-thalassemia trait. APIK J Int Med [serial online] 2020 [cited 2020 Mar 28];8:22-3. Available from: http://www.ajim.in/text.asp?2020/8/1/22/275975
| Introduction|| |
Systemic lupus erythematosus (SLE) is a systemic inflammatory disease that affects approximately 0.1% of the global population. Hematological abnormalities such as hemolytic anemia (autoimmune hemolytic anemia), leukopenia, and thrombocytopenia are frequently encountered in patients with SLE and are part of the American College of Rheumatology and Systemic Lupus International Collaborating Clinic (SLICC) criteria. Hematological abnormalities can be caused by SLE itself; however, other causes such as hemoglobinopathies may also coexist.
| Case Report|| |
A 38-year-old female patient with hypothyroidism on thyroxin supplementation presented with a history of easy fatigability, menorrhagia, and repeated admissions for blood transfusion. On examination, the patient had severe pallor, a hyperpigmented malar rash, a hemic murmur, and hepatosplenomegaly.
A complete blood count revealed hemoglobin (Hb) of 5.3 gm/dl, a total white blood cell count of 11,900 cells/mm 3 and platelet counts of 30,000 cells/mm 3. The peripheral smear obtained showed a picture of dimorphic anemia and thrombocytopenia. Further evaluation showed a reticulocyte count of (7%), normal Vitamin B12 levels (307 pg/ml), and a normal iron profile. A positive direct Coombs test was noted. Antineutrophilic antibodies (ANAs) were positive, and a subsequently done ANA profile (immunofluorescence) showed anti-smith antibody positivity.
In view of the dimorphic anemia and normal iron profile, Hb electrophoresis [Figure 1] was obtained which showed features suggestive of a beta-thalassemia trait.
Other investigations obtained during her hospital stay are mentioned below:
- Urine routine 1 + proteinuria
- 24-h urine protein: 380 mg/day
- Ultrasonography abdomen: Hepatosplenomegaly
- Bone marrow biopsy showed hypercellular marrow with erythroid hyperplasia
- Two-dimensional echocardiography: Large pericardial effusion.
The patient was started on steroids. On follow-up, the patient's Hb improved and her need for blood transfusion reduced.
| Discussion|| |
SLE is a multisystem disease and can involve any organ of the body concurrently or successively. Hemolytic anemia is a manifestation of SLE, but the coexistence of SLE with other hemolytic anemia has been reported rarely.
Hb is a tetramer, consisting of two alpha-like and two beta-like globin chains. Hemoglobinopathies are relatively common; they are heterogeneous group of inherited disorder resulting from either quantitative abnormality or structural abnormality of the globin part of the Hb molecule. They are the commonest monogenetic disorders worldwide, with an estimated carrier prevalence of ~7%, mainly in sub-Saharan Africa, South East Asia and the Western Pacific.
The causes for increased need for blood transfusion in beta-thalassemia patients include formation of alloantibodies, infections, and collagen vascular disorders. The diagnosis of SLE should be suspected in a thalassemic patient who has high unexplained blood transfusion requirements. Castellino et al. published a case series of 177 patients with SLE, of which 17 patients had thalassemia and all were females. They noted that beta-thalassemia, though less common in patients with SLE, was associated with more severe disease when both conditions coexisted. Similarly, Paul et al. suggested that whenever the transfusion requirement increases in patients with thalassemia, it warrants a search for an associated condition.
The Hb gene is in proximity to other genes for immune regulation such as STIM1, CD151, and TC21/RRAS22. These genes are involved in anti-inflammatory activities and may get deleted with the globin gene in thalassemia. This may account for the association of beta-thalassemia and some autoimmune disorders like SLE. Altinoz et al. proposed that the proximity of Hb-beta chain gene locus to several important genes regulating immune system may cause the haplotypal association at 11 P 15.5, of these immune-regulating genes with beta-globin chain gene.
An alternative explanation to the aforementioned association may be due to varying concentrations of hemorphins. Hemorphins are endogenous opioid peptides derived via proteolytical cleavage of Hb. They are shown to bind to diverse opioid receptors and act as anti-inflammatory agents. Their reduced expression in thalassemia heterozygosity may result in a pro-inflammatory stage and a predisposition to autoimmunity.
| Conclusion|| |
SLE associated with beta-thalassemia is rare, and the overall incidence of beta-thalassemia is less in patients with SLE; more severe systemic symptoms are seen in concomitant disease. Awareness of such association may help in early diagnosis and treatment, thus preventing severe disease manifestations.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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