A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS

Objective: Polycythemia is a rare condition in which an increase in erythrocyte mass is observed. It can be primary or secondary. Primary polycythemia occurs as a result of congenital or acquired mutations that regulate erythroid development. Although secondary polycythemia is mostly seen secondary...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Mustafa Bilici, Serap Karaman, Aysegul Unuvar, Deniz Tugcu, Gülsah Tanyildiz, Ayca Dilruba Aslanger, Oya Uyguner, Rumeysa Tuna Deveci, Sifa Sahin, Zeynep Karakas
Formato: article
Lenguaje:EN
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://doaj.org/article/09a147323fc14bf7894b83150b43b840
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
id oai:doaj.org-article:09a147323fc14bf7894b83150b43b840
record_format dspace
spelling oai:doaj.org-article:09a147323fc14bf7894b83150b43b8402021-11-10T04:38:55ZA CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS2531-137910.1016/j.htct.2021.10.1089https://doaj.org/article/09a147323fc14bf7894b83150b43b8402021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2531137921012360https://doaj.org/toc/2531-1379Objective: Polycythemia is a rare condition in which an increase in erythrocyte mass is observed. It can be primary or secondary. Primary polycythemia occurs as a result of congenital or acquired mutations that regulate erythroid development. Although secondary polycythemia is mostly seen secondary to hypoxia due to cardiac/pulmonary reasons, it also develops as a result of congenital mutations. Globin gene mutations that increase the affinity of hemoglobin for oxygen are one of these rare causes. Materials and Methods: We present a male case who was referred to us for polycythemia. Results: A 15-year-old male patient with no known disease was referred to us after his school screening revealed high hemoglobin (18 g/dL). In complete blood count, other series were normal (wbc 5.8 × 103/µL neu 3.3 × 103/µL plt 174 × 103/µL), bilirubins and liver functions were within normal limits. On physical examination, conjunctiva and hands were pletoric, there was no hepatosplenomegaly, intermittent headaches were present, and neurological examination was normal. The patient was examined for the etiology of polycythemia. Hyperchromic erythrocytes were found in peripheral smear, no signs of hemolysis were observed. EPO level (8 mIU/ml) was in the normal range and JAK2 (V617F) mutation was negative. The patient's cardiac and pulmonary functions were within normal limits. Hemoglobin electrophoresis was sent from the patient. HbA was determined as 59.2, HbA2 2.8, Variant Hb 38. c.435G>T mutation was detected in the HBB genetic analysis, and this was considered to be compatible with Hemoglobin Andrew-Minneapolis. It was learned that the patient's mother and her cousins had similar findings, and some of them had undergone phlebotomy. Phlebotomy was planned in the presence of the patient's hemoglobin value > 18 g/dL and clinical findings. Phlebotomy was performed 3 times, aspirin was not started because there was no history of thromboembolism. In our 1-year follow-up, the hemoglobin value was 17-17.5 g/dL. Conclusion: More than a hundred globin gene mutations associated with erythrocytosis have been described. Hemoglobin Andrew-Minneapolis mutation is one of them. Hemoglobin's affinity for oxygen has increased and EPO level is normal/increased. Due to the low number of cases, treatment recommendations were prepared based on polycythemia vera guidelines. Patients should be closely monitored in terms of hyperviscosity and thromboembolism, aspirin prophylaxis and phlebotomy are recommended according to symptoms. While investigating the etiology of polycythemia, hemoglobin electrophoresis is necessary, although it is very rare.Mustafa BiliciSerap KaramanAysegul UnuvarDeniz TugcuGülsah TanyildizAyca Dilruba AslangerOya UygunerRumeysa Tuna DeveciSifa SahinZeynep KarakasElsevierarticleDiseases of the blood and blood-forming organsRC633-647.5ENHematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S62-S63 (2021)
institution DOAJ
collection DOAJ
language EN
topic Diseases of the blood and blood-forming organs
RC633-647.5
spellingShingle Diseases of the blood and blood-forming organs
RC633-647.5
Mustafa Bilici
Serap Karaman
Aysegul Unuvar
Deniz Tugcu
Gülsah Tanyildiz
Ayca Dilruba Aslanger
Oya Uyguner
Rumeysa Tuna Deveci
Sifa Sahin
Zeynep Karakas
A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS
description Objective: Polycythemia is a rare condition in which an increase in erythrocyte mass is observed. It can be primary or secondary. Primary polycythemia occurs as a result of congenital or acquired mutations that regulate erythroid development. Although secondary polycythemia is mostly seen secondary to hypoxia due to cardiac/pulmonary reasons, it also develops as a result of congenital mutations. Globin gene mutations that increase the affinity of hemoglobin for oxygen are one of these rare causes. Materials and Methods: We present a male case who was referred to us for polycythemia. Results: A 15-year-old male patient with no known disease was referred to us after his school screening revealed high hemoglobin (18 g/dL). In complete blood count, other series were normal (wbc 5.8 × 103/µL neu 3.3 × 103/µL plt 174 × 103/µL), bilirubins and liver functions were within normal limits. On physical examination, conjunctiva and hands were pletoric, there was no hepatosplenomegaly, intermittent headaches were present, and neurological examination was normal. The patient was examined for the etiology of polycythemia. Hyperchromic erythrocytes were found in peripheral smear, no signs of hemolysis were observed. EPO level (8 mIU/ml) was in the normal range and JAK2 (V617F) mutation was negative. The patient's cardiac and pulmonary functions were within normal limits. Hemoglobin electrophoresis was sent from the patient. HbA was determined as 59.2, HbA2 2.8, Variant Hb 38. c.435G>T mutation was detected in the HBB genetic analysis, and this was considered to be compatible with Hemoglobin Andrew-Minneapolis. It was learned that the patient's mother and her cousins had similar findings, and some of them had undergone phlebotomy. Phlebotomy was planned in the presence of the patient's hemoglobin value > 18 g/dL and clinical findings. Phlebotomy was performed 3 times, aspirin was not started because there was no history of thromboembolism. In our 1-year follow-up, the hemoglobin value was 17-17.5 g/dL. Conclusion: More than a hundred globin gene mutations associated with erythrocytosis have been described. Hemoglobin Andrew-Minneapolis mutation is one of them. Hemoglobin's affinity for oxygen has increased and EPO level is normal/increased. Due to the low number of cases, treatment recommendations were prepared based on polycythemia vera guidelines. Patients should be closely monitored in terms of hyperviscosity and thromboembolism, aspirin prophylaxis and phlebotomy are recommended according to symptoms. While investigating the etiology of polycythemia, hemoglobin electrophoresis is necessary, although it is very rare.
format article
author Mustafa Bilici
Serap Karaman
Aysegul Unuvar
Deniz Tugcu
Gülsah Tanyildiz
Ayca Dilruba Aslanger
Oya Uyguner
Rumeysa Tuna Deveci
Sifa Sahin
Zeynep Karakas
author_facet Mustafa Bilici
Serap Karaman
Aysegul Unuvar
Deniz Tugcu
Gülsah Tanyildiz
Ayca Dilruba Aslanger
Oya Uyguner
Rumeysa Tuna Deveci
Sifa Sahin
Zeynep Karakas
author_sort Mustafa Bilici
title A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS
title_short A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS
title_full A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS
title_fullStr A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS
title_full_unstemmed A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS
title_sort case of polycythemia diagnosed as hemoglobin andrew-minneapolis
publisher Elsevier
publishDate 2021
url https://doaj.org/article/09a147323fc14bf7894b83150b43b840
work_keys_str_mv AT mustafabilici acaseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT serapkaraman acaseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT aysegulunuvar acaseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT deniztugcu acaseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT gulsahtanyildiz acaseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT aycadilrubaaslanger acaseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT oyauyguner acaseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT rumeysatunadeveci acaseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT sifasahin acaseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT zeynepkarakas acaseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT mustafabilici caseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT serapkaraman caseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT aysegulunuvar caseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT deniztugcu caseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT gulsahtanyildiz caseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT aycadilrubaaslanger caseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT oyauyguner caseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT rumeysatunadeveci caseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT sifasahin caseofpolycythemiadiagnosedashemoglobinandrewminneapolis
AT zeynepkarakas caseofpolycythemiadiagnosedashemoglobinandrewminneapolis
_version_ 1718440530315051008