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Year : 2017  |  Volume : 8  |  Issue : 4  |  Page : 135-139

Utility of screening golf ball inclusions in hemoglobin H disease and its clinico-hematological profile

1 Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
2 All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Dr. Seema Tyagi
Room No 207, Second Floor, New Private Ward, All India Institute of Medical Sciences, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/joah.joah_46_17

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BACKGROUND: In India, hemoglobinopathy screening programs focus on reducing the burden of beta-thalassemia by screening the antenatal females and young adolescents. Although alpha (α)-thalassemia is common in the Mediterranean countries, alpha (α)-thalassemia screening and diagnosis are performed in a few centers in India. HbH disease is an uncommon clinical phenotype of α-thalassemia with variable clinical presentation. The hallmark feature of HbH is the presence of golf ball inclusions in the red cells demonstrated with supravital staining. PATIENTS AND METHODS: Here, we discuss an algorithmic approach to screen hemograms for thalassemic indices, followed by evaluation of reticulocyte preparation after 40 minutes (supravital stain preparation for golf ball inclusions). If golf ball inclusions were positive, Hb analysis on Hb-capillary zone electrophoresis (Hb-CZE)was done. RESULTS: We received 28,000 samples for complete hemogram and blood film examination, over a period of 8 months. Reticulocyte count was required in 11,600 samples out of which 13 cases were positive for golf ball inclusions. Of these, nine were identified as HbH disease on Hb-CZE. These patients presented with pallor and generalized weakness. On examination, jaundice (3/9 patients) and hepatosplenomegaly (4/9 patients) were relatively uncommon. The majority of them (6/9) required infrequent blood transfusions. All patients had microcytic hypochromic red cell indices with median HbA of 89% (range: 68.1%–96.9%), HbA2 of 1.4% (range: 0.8%–1.7%), and fast-moving band in zone 15 (HbH) of 5.6% (range: 1.4%–30.3%) on Hb-CZE. CONCLUSION: We emphasize a systematic screening of hemograms and peripheral smears along with a simple and cost-effective screening test for golf ball inclusions to diagnose HbH disease that often poses a clinical dilemma due to its variable clinical presentation.

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