{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T18:14:24Z","timestamp":1768328064326,"version":"3.49.0"},"reference-count":0,"publisher":"Hematology Section, Dept. of Radiological Science and Hematology, Catholic University, Rome, Italy","issue":"1","license":[{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mediterr J Hematol Infect Dis"],"abstract":"<jats:p>Background: Haemoglobinopathies are the commonest hereditary disorders in India and pose a major health problem. Both beta thalassaemia and structural haemoglobin variants are relatively common in north western India. Here we report a 29 year old Sindhi female who was referred to us for a haemoglobinopathy work up and genetic counseling since her spouse was a classical beta thalassaemia carrier. Method: A complete blood count was done on an automated cell counter. Haemoglobin analysis was carried out using HPLC Variant Haemoglobin Testing System.\u00a0 The cellulose acetate electrophoresis was carried out [pH 8.9]. Confirmation of mutations was done by automated DNA sequencing. Results: HPLC analysis showed four major peaks, HbA0, a peak in the HbD window, an unknown peak [retention time 4.74 minutes] and a peak in the HbC window. The HbA2 level was 2.2% and the HbF level was 0.7%.Cellulose acetate electrophoresis at alkaline pH, a slow moving band was seen at the HbS\/D position along with a prominent band at the HbA2 position. DNA sequencing of the ? and ? genes showed presence of the 2 hemoglobin variants :Hb D [b 121GAA \u00e0 CAA] and Hb Q [a 64 AAG \u00e0 GAG]. The ? globin gene was normal. The additional peak in the HbC window was due to the formation of a heterodimer hybrid. Conclusion: Both HbD Punjab and HbQ India are relatively common in India but their co-inheritance has not been described in the country. This is the second report of compound heterozygosity for HbQ India\/HbD Punjab haemoglobinopathy globally, and the first one from India.<\/jats:p>","DOI":"10.4084\/mjhid.2014.072","type":"journal-article","created":{"date-parts":[[2014,10,27]],"date-time":"2014-10-27T10:44:59Z","timestamp":1414406699000},"page":"e2014072","source":"Crossref","is-referenced-by-count":4,"title":["HbD Punjab\/HbQ India compound heterozygosity: An unusual association."],"prefix":"10.4084","volume":"6","author":[{"given":"Stacy","family":"Colaco","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reema","family":"Surve","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pratibha","family":"Sawant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Nadkarni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanjaksha","family":"Ghosh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roshan","family":"Colah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2554","published-online":{"date-parts":[[2014,11,1]]},"container-title":["Mediterranean Journal of Hematology and Infectious Diseases"],"original-title":[],"link":[{"URL":"https:\/\/www.mjhid.org\/mjhid\/article\/download\/2014.072\/2344","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.mjhid.org\/mjhid\/article\/download\/2014.072\/2356","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.mjhid.org\/mjhid\/article\/download\/2014.072\/2344","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T11:32:20Z","timestamp":1768303940000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mjhid.org\/mjhid\/article\/view\/2014.072"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,1]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2014,1,2]]}},"URL":"https:\/\/doi.org\/10.4084\/mjhid.2014.072","relation":{},"ISSN":["2035-3006"],"issn-type":[{"value":"2035-3006","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,1]]}}}