155:
In 1974, another abnormal hemoglobin which they called hemoglobin O-Padova was identified from an
Italian woman in Padova. It showed glutamic acid to lysine substitution at position 11. The woman was suffering from a complicated blood conditions. The mother and one of the two children indicated the
151:
HbA/HbO) while her mother HbS carrier. Out of the six siblings, three had no HbO (though one has HbS), one had a heterozygous HbO. The boy and his older sister were diagnosed with sickle cell disease due to inherited HbS/HbO combination. It was later found that the amino acid replacement is at
135:
The same hemoglobin type was found in Iran in 1973. It was found that the protein modification was at position 116 where lysine was present in place of glutamic acid. In 1978, a similar case was reported from Italy. The hemoglobin was eventually named hemoglobin O Indonesia.
126:
As it has been confirmed by different laboratories that
Buginese X differs from all other known haemoglobins, it should be allotted a letter. N was the letter most recently used to designate haemoglobin Liberian I (personal communication by Dr.
172:
Hemoglobin O-Arab causes sickle cell disease in heterozygous (HbS/HbO) individuals. However, the symptomatic anemia is mild and is not life-threatening. It is even milder than in heterozygous sickle cell trait (HbS/HbA). A case of
164:
Hemoglobin O Indonesia is mostly harmless. But some individuals may indicate mild anemia. Even under heterozygous condition such as with HbD, no serious symptom is observed. With HbS, there can be mild
147:) including sickled RBCs. His Hemoglobin was different from HbC and HbS and was designated as hemoglobin O (HbO). On investigating his family, his father was found to be the HbO carrier (i.e.
90:. The discovery went unnoticed as he later remarked, "This report, however, did not attract any attention as it was written in the Indonesian language." He again reported his observation in
638:"A new abnormal hemoglobin O Padova, alpha 30 (B11) Glu -- Lys, and a dyserythropoietic anemia with erythroblastic multinuclearity coexisting in the same patient"
188:
Hemoglobin O-Padova in homozygous condition is associated with complex genetic and physiological anomalies. In the first woman diagnosed, severe RBC damage (
62:, even under combination with these abnormal hemoglobins. Hemoglobin O-Padova is the most severe form and is associated with disease of the RBCs and spleen.
131:). So far as we know, the letter 0 has not yet been used, and therefore Buginese X should be called Hb 0. Dr. James V. Neel agreed with this choice.
1022:
47:(HbO-Arab) substitution occurs at position 121, while in hemoglobin O-Padova (HbO-Padova) it is at 11 position, and in hemoglobin O Indonesia (HbO
189:
113:
116:, he was convinced that his discovery was a new type of hemoglobin. He gave the name "hemoglobin Buginese X" as he reported in
101:
812:
Kumar, Ravindra; Patel, Purushottam; Gwal, Anil; Bharti, Praveen K.; Colah, Roshan; Rajasubramaniam, Shanmugam (2019).
118:
765:"Summary and Review of the Abstracts on Disorders of Red Cells and Erythropoiesis Presented at Haematocon 2016-2017"
196:), and abnormal RBC (hereditary erythroblastic multinuclearity). But heterozygous condition is clinically harmless.
677:
Kilinç, Y.; Kumi, M.; Gurgey, A.; Altay, Ç.; Webber, B. B.; Wilson, J. B.; Kutlar, A.; Huisman, T. H. J. (1985).
263:
Kilinç, Y.; Kumi, M.; Gurgey, A.; Altay, Ç.; Webber, B. B.; Wilson, J. B.; Kutlar, A.; Huisman, T. H. J. (1985).
1017:
174:
105:
71:
725:
305:
Daud, D.; Harahap, A.; Setianingsih, I.; Nainggolan, I.; Tranggana, S.; Pakasi, R.; Marzuki, S. (2001).
39:, but at different positions. Since the amino acid substitution can occur at different positions of the
1012:
726:"A Double Heterozygous Hemoglobin: Hemoglobin O Indonesia and Hemoglobin D Punjab in an Individual"
87:
55:
218:"Clinical and hematological features of homozygous hemoglobin O-Arab [beta 121 Glu → Lys]"
988:
507:
336:
245:
678:
636:
Vettore, L.; De Sandre, G.; Di Iorio, E. E.; Winterhalter, K. H.; Lang, A.; Lehmann, H. (1974).
440:
264:
910:
Sanders, Riley; Ly, Victoria; Ahmad, Kinza; Swift, Jesse; Sallam, Ahmed; Uwaydat, Sami (2020).
528:
Ramot, B.; Fisher, S.; Remez, D.; Schneerson, R.; Kahane, D.; Ager, J. A.; Lehmann, H. (1960).
980:
941:
892:
843:
814:"Clinico-Hematological Presentation of Rare Hemoglobin Variant (HB-O Indonesia) in 3 Families"
794:
745:
706:
698:
659:
611:
559:
499:
460:
390:
328:
284:
237:
166:
44:
972:
931:
923:
882:
874:
833:
825:
784:
776:
737:
690:
649:
601:
593:
549:
541:
491:
452:
421:
380:
372:
318:
276:
229:
144:
478:
Saechan, Vannarat; Nopparatana, Chawadee; Nopparatana, Chamnong; Fucharoen, Suthat (2010).
961:"The interaction of hemoglobin O Arab with Hb S and beta+ thalassemia among Israeli Arabs"
582:"Homozygous haemoglobin O disease and conjugated hyperbilirubinaemia in a Sudanese family"
97:
83:
75:
480:"Molecular basis and hematological features of hemoglobin variants in Southern Thailand"
936:
911:
887:
862:
838:
813:
789:
764:
606:
581:
554:
529:
385:
360:
1006:
679:"Hemoglobin O-Padova or α2 30(B11)GLU→LYS β2 Observed in Members of a Turkish Family"
265:"Hemoglobin O-Padova or α2 30(B11)GLU→LYS β2 Observed in Members of a Turkish Family"
140:
139:
In 1960, a different but related hemoglobin was found from an 8-year-old Arab boy at
128:
28:
992:
340:
249:
511:
193:
109:
79:
36:
152:
position 121 of the hemoglobin. The hemoglobin is now known as hemoglobin O-Arab.
409:
654:
637:
441:"Hb O Indonesia (α 2 116(Gh4) Glu → Lys β 2): in Association with β-Thalassemia"
307:"The Hemoglobin O mutation in Indonesia: distribution and phenotypic expression"
59:
829:
479:
217:
960:
780:
694:
495:
456:
280:
92:
74:, Djakarta, was the first to notice the abnormal hemoglobin in 1956 among the
24:
702:
70:
Hemoglobin O Indonesia is the first discovered HbO. Lie-Injo Luan Eng at the
741:
597:
545:
410:"Haemoglobin O Indonesia (α116 Glutamic Acid → Lysine) in an Iranian Family"
376:
945:
878:
847:
798:
563:
503:
394:
332:
241:
984:
959:
Rachmilewitz, E. A.; Tamari, H.; Liff, F.; Ueda, Y.; Nagel, R. L. (1985).
896:
749:
710:
663:
615:
323:
306:
288:
86:. It also showed different characters form HbS and HbC, and did not cause
464:
182:
178:
148:
976:
912:"Hemoglobin S/OArab: Retinal Manifestations of a Rare Hemoglobinopathy"
78:
of
Sulawesi Island in Indonesia. It was found among normal hemoblobin (
927:
425:
233:
32:
580:
Ibrahim, S. A.; Mustafa, D.; Mohamed, A. O.; Mohed, M. B. (1992).
143:
in Israel. As the boy had severe pneumonia and blood abnormality (
54:
HbO is usually harmless unlike other hemoglobin variants such as
408:
Rahbar, S.; Berelian, F.; Nowzari, G.; Daneshmand, P. (1973).
40:
439:
Marinucci, M.; Mavilio, F.; Tentori, L.; Alberti, R. (1978).
108:
in the
Netherlands, and letting experimentally verified by
863:"Sickle-cell haemoglobin O disease in a Sudanese family"
724:
Rahbar, Samuel; Nowzari, Guity; Poosti, Mohamad (1975).
818:
Indian
Journal of Hematology & Blood Transfusion
769:
Indian
Journal of Hematology & Blood Transfusion
211:
209:
185:(conjugated hyperbilirubinemia), and mild anemia.
43:of the protein, there are several variants. In
8:
82:) of the blood samples but different under
935:
886:
837:
788:
653:
605:
553:
384:
322:
156:same hemoglobin but without any symptom.
361:"Haemoglobin O (Buginese X) in Sulawesi"
205:
730:American Journal of Clinical Pathology
631:
629:
627:
625:
7:
861:Ibrahim, S. A.; Mustafa, D. (1967).
575:
573:
523:
521:
354:
352:
350:
300:
298:
104:in London and T.H.J. Huisman at the
27:in which there is a substitution of
484:International Journal of Hematology
359:Lie-Injo, Luan Eng; Sadono (1958).
181:condition, it is also linked with
114:California Institute of Technology
14:
530:"Haemoglobin O in An Arab Family"
96:the next year. After consulting
1023:Genetic diseases and disorders
1:
916:Case Reports in Ophthalmology
106:State University of Groningen
222:Pediatric Blood & Cancer
655:10.1182/blood.V44.6.869.869
119:The British Medical Journal
1039:
830:10.1007/s12288-019-01125-6
192:), enlargement of spleen (
781:10.1007/s12288-017-0912-y
763:Sharma, Prashant (2018).
695:10.3109/03630268508997044
496:10.1007/s12185-010-0682-x
457:10.3109/03630267808999189
311:Journal of Human Genetics
281:10.3109/03630268508997044
102:St Bartholomew's Hospital
190:dyserythropoietic anemia
867:British Medical Journal
598:10.1136/bmj.304.6818.26
546:10.1136/bmj.2.5208.1262
534:British Medical Journal
377:10.1136/bmj.1.5085.1461
365:British Medical Journal
175:sickle cell retinopathy
72:University of Indonesia
879:10.1136/bmj.3.5567.715
133:
742:10.1093/ajcp/64.3.416
324:10.1007/s100380170030
177:is documented. Under
124:
216:Dror, Sayar (2013).
122:in 1958, concluding:
23:) is a rare type of
540:(5208): 1262–1264.
371:(5085): 1461–1462.
977:10.1007/BF00273069
414:Acta Haematologica
928:10.1159/000507879
873:(5567): 715–717.
426:10.1159/000208326
234:10.1002/pbc.24414
169:but no symptoms.
167:sickle cell trait
45:hemoglobin O-Arab
1030:
997:
996:
956:
950:
949:
939:
907:
901:
900:
890:
858:
852:
851:
841:
809:
803:
802:
792:
760:
754:
753:
721:
715:
714:
674:
668:
667:
657:
633:
620:
619:
609:
577:
568:
567:
557:
525:
516:
515:
475:
469:
468:
436:
430:
429:
405:
399:
398:
388:
356:
345:
344:
326:
302:
293:
292:
260:
254:
253:
213:
145:hemoglobinopathy
88:sickling of RBCs
51:) it is at 116.
1038:
1037:
1033:
1032:
1031:
1029:
1028:
1027:
1018:Blood disorders
1003:
1002:
1001:
1000:
958:
957:
953:
909:
908:
904:
860:
859:
855:
811:
810:
806:
762:
761:
757:
723:
722:
718:
676:
675:
671:
635:
634:
623:
592:(6818): 26–27.
579:
578:
571:
527:
526:
519:
477:
476:
472:
438:
437:
433:
407:
406:
402:
358:
357:
348:
304:
303:
296:
262:
261:
257:
215:
214:
207:
202:
162:
98:Hermann Lehmann
84:electrophoresis
76:Buginese people
68:
50:
12:
11:
5:
1036:
1034:
1026:
1025:
1020:
1015:
1005:
1004:
999:
998:
971:(2): 119–125.
965:Human Genetics
951:
922:(2): 189–195.
902:
853:
824:(3): 596–598.
804:
755:
736:(3): 416–420.
716:
689:(6): 621–625.
669:
648:(6): 869–877.
621:
569:
517:
490:(3): 445–450.
470:
431:
400:
346:
317:(9): 499–505.
294:
275:(6): 621–625.
255:
228:(3): 506–507.
204:
203:
201:
198:
161:
158:
67:
64:
48:
41:β-globin chain
13:
10:
9:
6:
4:
3:
2:
1035:
1024:
1021:
1019:
1016:
1014:
1011:
1010:
1008:
994:
990:
986:
982:
978:
974:
970:
966:
962:
955:
952:
947:
943:
938:
933:
929:
925:
921:
917:
913:
906:
903:
898:
894:
889:
884:
880:
876:
872:
868:
864:
857:
854:
849:
845:
840:
835:
831:
827:
823:
819:
815:
808:
805:
800:
796:
791:
786:
782:
778:
774:
770:
766:
759:
756:
751:
747:
743:
739:
735:
731:
727:
720:
717:
712:
708:
704:
700:
696:
692:
688:
684:
680:
673:
670:
665:
661:
656:
651:
647:
643:
639:
632:
630:
628:
626:
622:
617:
613:
608:
603:
599:
595:
591:
587:
583:
576:
574:
570:
565:
561:
556:
551:
547:
543:
539:
535:
531:
524:
522:
518:
513:
509:
505:
501:
497:
493:
489:
485:
481:
474:
471:
466:
462:
458:
454:
450:
446:
442:
435:
432:
427:
423:
419:
415:
411:
404:
401:
396:
392:
387:
382:
378:
374:
370:
366:
362:
355:
353:
351:
347:
342:
338:
334:
330:
325:
320:
316:
312:
308:
301:
299:
295:
290:
286:
282:
278:
274:
270:
266:
259:
256:
251:
247:
243:
239:
235:
231:
227:
223:
219:
212:
210:
206:
199:
197:
195:
191:
186:
184:
180:
176:
170:
168:
159:
157:
153:
150:
146:
142:
141:Jisr az-Zarqa
137:
132:
130:
129:James V. Neel
123:
121:
120:
115:
111:
107:
103:
99:
95:
94:
89:
85:
81:
77:
73:
65:
63:
61:
57:
52:
46:
42:
38:
34:
30:
29:glutamic acid
26:
22:
18:
968:
964:
954:
919:
915:
905:
870:
866:
856:
821:
817:
807:
772:
768:
758:
733:
729:
719:
686:
682:
672:
645:
641:
589:
585:
537:
533:
487:
483:
473:
451:(1): 59–63.
448:
444:
434:
420:(1): 30–35.
417:
413:
403:
368:
364:
314:
310:
272:
268:
258:
225:
221:
194:splenomegaly
187:
171:
163:
154:
149:heterozygous
138:
134:
125:
117:
110:Harvey Itano
91:
69:
60:thalassemias
53:
37:hemoglobin C
20:
17:Hemoglobin O
16:
15:
1013:Hemoglobins
775:(1): 8–12.
1007:Categories
683:Hemoglobin
445:Hemoglobin
269:Hemoglobin
200:References
179:homozygous
93:The Lancet
25:hemoglobin
703:0363-0269
66:Discovery
993:33774827
946:32595482
848:31388286
799:29398793
564:20788973
504:20838957
395:13536534
341:22570156
333:11558897
250:33284846
242:23192960
183:jaundice
985:3859465
937:7315179
897:6038366
888:1843069
839:6646446
790:5786642
750:1163493
711:2869010
664:4429803
616:1734988
607:1880929
555:2097055
512:6985054
386:2029285
289:2869010
160:Disease
112:at the
100:at the
991:
983:
944:
934:
895:
885:
846:
836:
797:
787:
748:
709:
701:
662:
614:
604:
562:
552:
510:
502:
465:640843
463:
393:
383:
339:
331:
287:
248:
240:
35:as in
33:lysine
989:S2CID
642:Blood
508:S2CID
337:S2CID
246:S2CID
981:PMID
942:PMID
893:PMID
844:PMID
795:PMID
746:PMID
707:PMID
699:ISSN
660:PMID
612:PMID
560:PMID
500:PMID
461:PMID
391:PMID
329:PMID
285:PMID
238:PMID
58:and
973:doi
932:PMC
924:doi
883:PMC
875:doi
834:PMC
826:doi
785:PMC
777:doi
738:doi
691:doi
650:doi
602:PMC
594:doi
590:304
586:BMJ
550:PMC
542:doi
492:doi
453:doi
422:doi
381:PMC
373:doi
319:doi
277:doi
230:doi
80:HbA
56:HbS
49:Ina
31:by
21:HbO
1009::
987:.
979:.
969:70
967:.
963:.
940:.
930:.
920:11
918:.
914:.
891:.
881:.
869:.
865:.
842:.
832:.
822:35
820:.
816:.
793:.
783:.
773:34
771:.
767:.
744:.
734:64
732:.
728:.
705:.
697:.
685:.
681:.
658:.
646:44
644:.
640:.
624:^
610:.
600:.
588:.
584:.
572:^
558:.
548:.
536:.
532:.
520:^
506:.
498:.
488:92
486:.
482:.
459:.
447:.
443:.
418:50
416:.
412:.
389:.
379:.
367:.
363:.
349:^
335:.
327:.
315:46
313:.
309:.
297:^
283:.
271:.
267:.
244:.
236:.
226:60
224:.
220:.
208:^
995:.
975::
948:.
926::
899:.
877::
871:3
850:.
828::
801:.
779::
752:.
740::
713:.
693::
687:9
666:.
652::
618:.
596::
566:.
544::
538:2
514:.
494::
467:.
455::
449:2
428:.
424::
397:.
375::
369:1
343:.
321::
291:.
279::
273:9
252:.
232::
19:(
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