Hb M-Boston: a case report and overview

doi:10.3969/j.issn.1674-8115.2022.04.019

Abstract

Abstract:

A 29-year-old male with cyanosis had low oxygen saturation (SaO₂ 89.3%) with normal echocardiography and chest X-ray findings. The patient's peripheral blood was analyzed by routine blood analysis and screening tests for hemolysis, and hemoglobin detection was performed by high performance liquid chromatography (HPLC). The polymerase chain reaction (PCR) and reverse dot blot (RDB) technique were used to detect 17 common β-thalassemia gene mutations and non-deletional α-thalassemia in Chinese. Gap-PCR combined with agarose gel electrophoresis was used to detect deletional α-thalassemia. PCR and DNA sequencing for α- and β-globin gene (HBA1, HBA2 and HBB) were simultaneously performed. Both of the routine blood analysis and hemolysis screening tests were with normal findings. The HPLC pattern showed a peak with 8.1% of area at 4.53 min position (S window). Gene analysis showed a heterozygous mutation of HBA2 c.175C>T, Hb M-Boston^{α58 His>Tyr}. Hb M is a kind of Hb with the structural variant that stabilizes heme iron in the oxidized (ferric) state. It can be confused with other causes of methemoglobinemia, like genetic alterations in methemoglobin reductase enzyme systems of red cells. The heterozygotes of Hb M-Boston with typical lifelong cyanosis and good prognosis is really unusual in Chinese population, which does not require any treatment.

Key words: Hb M-Boston, high performance liquid chromatography (HPLC), globin gene

CLC Number:

R556.7

WANG Yefei, ZHANG Yuemin, WU Beiying, XIA Wenquan. Hb M-Boston: a case report and overview[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2022, 42(4): 551-556.

Figures/Tables 4

TrendMD

References 20

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Amount of MetHb/%	Sign and symptom
10‒20	Cyanosis and brown blood
30	Dyspnoea， nausea and tachycardia
55	Lethargy， syncope， loss of consciousness and coma
>70	Incompatible with life

Amount of MetHb/%	Sign and symptom
10‒20	Cyanosis and brown blood
30	Dyspnoea， nausea and tachycardia
55	Lethargy， syncope， loss of consciousness and coma
>70	Incompatible with life

Hb	Mutation	Abnormal globin chain	Oxygen affinity	Clinical feature	Other name
β chain variant
M-Saskatoon	HBB：c.190C>T	α₂β₂^{63（E7）His→Tyr}	Normal	Mild polycythemia， cyanosis	Hörlein-Weber， Leipzig， M-Arhus，M-Chicago， M-Emory，M-Erlangen， M-Hamburg，M-Hida， M-Kurume，M-Radom Novi Sad
M-Milwaukee-2	HBB：c.277C>T	α₂β₂^{92（F8）His→Tyr}	Normal	Cyanosis	M-Akita M-Hyde Park
M-Milwaukee-I	HBB：c.203T>A	α₂β₂^{67（E11）Val→Glu}	Reduced	No hemolysis
M-Dothan	HBB： c.77_79delGTG	α₂β₂^{25/26（B7/B8）Gly/Glu→Glu}	Mild reduced	Marked cyanosis
α chain variant
M-Iwate	HBA2：c.262C>T	α₂^{87（F8）His→Tyr}β₂	Reduced	Cyanosis	M-Kankakee，M-Oldenburg， M-Sendai
M-Boston	HBA2：c.175C>T	α₂^{58（E7）His→Tyr}β₂	Reduced	Normal/cyanosis	M-Gothenburg，M-Kiskunhalas， M-Norin，M-Osaka
M-Yantai	HBA2： c.76 G>T	α₂^76ASP→Tyrβ₂	Reduced	Congenital cyanosis
γ chain variant
FM-Osaka	HBG2： c.190C>T	α₂^Gγ₂^{63（E7）His→Tyr}	Reduced	Neonatal cyanosis
FM -Fort Ripley	HBG2： c.227C>T	α₂^Gγ₂^{92（F8）His→Tyr}	Reduced	Neonatal cyanosis
FM Viseu	HBG2： c85C>A	α₂^Gγ₂^{28（B10）Leu→Met}	Reduced	Cyanosis
F Circleville	HBG2： c.191A>T	α₂^Gγ^{63（E7）His→Leu}	Reduced	Neonatal cyanosis
F Cincinnati	HBG2： c.125T>C	α₂^Gγ^{41（C7）Phe→Ser}	Reduced	Neonatal cyanosis
FM Toms River	HBG2： c.202G>A	α₂^Gγ^{67（E11）Val→Met}	Reduced	Congenital anemia， cyanosis

Hb	Mutation	Abnormal globin chain	Oxygen affinity	Clinical feature	Other name
β chain variant
M-Saskatoon	HBB：c.190C>T	α₂β₂^{63（E7）His→Tyr}	Normal	Mild polycythemia， cyanosis	Hörlein-Weber， Leipzig， M-Arhus，M-Chicago， M-Emory，M-Erlangen， M-Hamburg，M-Hida， M-Kurume，M-Radom Novi Sad
M-Milwaukee-2	HBB：c.277C>T	α₂β₂^{92（F8）His→Tyr}	Normal	Cyanosis	M-Akita M-Hyde Park
M-Milwaukee-I	HBB：c.203T>A	α₂β₂^{67（E11）Val→Glu}	Reduced	No hemolysis
M-Dothan	HBB： c.77_79delGTG	α₂β₂^{25/26（B7/B8）Gly/Glu→Glu}	Mild reduced	Marked cyanosis
α chain variant
M-Iwate	HBA2：c.262C>T	α₂^{87（F8）His→Tyr}β₂	Reduced	Cyanosis	M-Kankakee，M-Oldenburg， M-Sendai
M-Boston	HBA2：c.175C>T	α₂^{58（E7）His→Tyr}β₂	Reduced	Normal/cyanosis	M-Gothenburg，M-Kiskunhalas， M-Norin，M-Osaka
M-Yantai	HBA2： c.76 G>T	α₂^76ASP→Tyrβ₂	Reduced	Congenital cyanosis
γ chain variant
FM-Osaka	HBG2： c.190C>T	α₂^Gγ₂^{63（E7）His→Tyr}	Reduced	Neonatal cyanosis
FM -Fort Ripley	HBG2： c.227C>T	α₂^Gγ₂^{92（F8）His→Tyr}	Reduced	Neonatal cyanosis
FM Viseu	HBG2： c85C>A	α₂^Gγ₂^{28（B10）Leu→Met}	Reduced	Cyanosis
F Circleville	HBG2： c.191A>T	α₂^Gγ^{63（E7）His→Leu}	Reduced	Neonatal cyanosis
F Cincinnati	HBG2： c.125T>C	α₂^Gγ^{41（C7）Phe→Ser}	Reduced	Neonatal cyanosis
FM Toms River	HBG2： c.202G>A	α₂^Gγ^{67（E11）Val→Met}	Reduced	Congenital anemia， cyanosis

[1]	WANG Yefei, ZHANG Yuemin, WU Beiying, XIA Wenquan. Hb M-Boston: a case report and overview [J]. Journal of Shanghai Jiao Tong University (Medical Science), 0, (): 2-7.
[2]	GU Yan-ying1, WU Bei-ying1, LIN Lin1, CAI Gang1#, GU Ming-min2#. Study on genotype of thalassemia with abnormal -α3.7 deletion band [J]. JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE), 2020, 40(8): 1081-1085.