Tushar Sehgal1, Neelam Varma2, Reena Das2, Subhash Varma3
1 Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh; Department of Laboratory Medicine (Hematology), All India Institute of Medical Sciences, New Delhi, India
2 Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
3 Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India
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|Date of Submission||25-Apr-2020|
|Date of Decision||08-Aug-2020|
|Date of Acceptance||09-Dec-2020|
|Date of Web Publication||14-Apr-2022|
|How to cite this article:
Sehgal T, Varma N, Das R, Varma S. Simultaneous presentation of glucose-6-phosphate dehydrogenase deficiency and idiopathic autoimmune hemolytic anemia. Indian J Pathol Microbiol 2022;65:507-9
|How to cite this URL:
Sehgal T, Varma N, Das R, Varma S. Simultaneous presentation of glucose-6-phosphate dehydrogenase deficiency and idiopathic autoimmune hemolytic anemia. Indian J Pathol Microbiol [serial online] 2022 [cited 2022 May 5];65:507-9. Available from: https://www.ijpmonline.org/text.asp?2022/65/2/507/343201
In healthy individuals, red blood cells (RBC) survive for 90–120 days in circulation. There exists a delicate balance of red cell destruction and marrow compensation in the body. In patients with hemolytic anemia this balance is disturbed. RBC destruction may be due to intrinsic or extrinsic factors. The former includes RBC membrane defects and enzyme disorders, whereas latter are due to immune attack and microangiopathies. Simultaneous RBC destruction due to intrinsic and extrinsic factors is uncommon., We report one such interesting case of co-occurrence of both factors; Glucose 6-phosphate dehydrogenase (G6PD) deficiency and autoimmune hemolytic anemia (AIHA) in the same patient.
A 21-year-old male presented to the hospital with easy fatigability and yellow discoloration of eyes since 15 days. There was no fever, no exposure to cold or intake of any medications or foodstuffs. There was no family history or similar episodes in the past. On examination there was pallor, icterus, and no organomegaly. Hemoglobin was 7.4 g/dl with marked reticulocytosis of 26%. White blood cells and platelets were within normal limits. Blood film showed macrocytosis with numerous spherocytes and polychromasia [Figure 1]. Total bilirubin was 9.98 mg/dl; predominantly unconjugated type (9.6 mg/dl) with high lactate dehydrogenase of 1613 U/L. Urine examination was unremarkable. Direct Antiglobulin Test showed positivity (2+) with anti-IgG only. Indirect Antiglobulin Test and antinuclear antibody were negative. High-performance liquid chromatography interestingly showed a markedly decreased P2 peak (glycosylated hemoglobin) of 0.8% (normal range 3.5–4.8%) consistent with hemolytic anemia. G6PD screening by methemoglobin reduction test showed chocolate brown color (G6PD deficient) as against cherry red color in the negative control. Molecular analysis confirmed hemizygous G6PD Mediterranean variant [Figure 2]. No secondary cause could be attributed to immune hemolysis of RBC and thus he was classified as G6PD deficiency with idiopathic AIHA. He was initially started on wysolone with partial response and later switched to azathioprine to which he responded favorably.
|Figure 1: High power view shows numerous spherocytes (RBC with no central pallor, shown by right and left pointing arrows) and polychromatic RBCs (shown by downward pointing arrow). Also seen is a polymorph in the picture. Leishman stain 400×|
|Figure 2: Gel picture of 8% polyacrylamide gel electrophoresis using restriction enzyme MboII. Lane 1 shows undigested product (547 bp), lane 2 shows a heterozygous female (377 bp, 277 bp, 119 bp), lane 3 shows the index male patient (277 bp, 119 bp, 100 bp) and lane 4 is a normal female (377 bp and 119 bp). Bands of sizes 25 bp and 26 bp are not seen the gel. M depicts the molecular ladder|
G6PD deficiency is an X-linked disorder first recognized in African-American soldiers taking the antimalarial drug primaquine In most G6PD deficient individuals, there is no anemia in steady state. Acute hemolysis occurs following exposure to drugs, infections, or ingestion of certain foodstuffs. However, in AIHA the cause of hemolysis is the pathologic antibodies that attach to and lead to the destruction of erythrocytes resulting in anemia. Simultaneous presentation of both disorders is uncommon; nevertheless, two cases have been reported in literature. The first is a young male a known G6PD deficient with severe aortic insufficiency. He developed AIHA following ingestion of aspirin. In the other case hemolysis was triggered by hepatitis A infection. On further investigation the patient was found to be G6PD deficient with increased ANA titre Our patient was apparently normal when he developed anemia and jaundice. He was found to be G6PD deficient and with no secondary cause of AIHA.
To conclude AIHA and deficiency of G6PD may rarely present in conjunction therefore laboratory physicians should be well aware about this rare occurrence in order to facilitate prompt diagnosis and early treatment.
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