DIFFERENTIAL DIAGNOSIS OF CONGENITAL HEMOLYTIC ANEMIA OF NEONATES AND INFANTS IN JAPAN
Author(s): ,
Hiromi Ogura
Affiliations:
Transfusion Medicine and Cell Processing,Tokyo Women's Medical University,Tokyo,Japan
,
Taiju Utsugisawa
Affiliations:
Transfusion Medicine and Cell Processing,Tokyo Women's Medical University,Tokyo,Japan
,
Takako Aoki
Affiliations:
Transfusion Medicine and Cell Processing,Tokyo Women's Medical University,Tokyo,Japan
,
Akemi Kinoshita
Affiliations:
Transfusion Medicine and Cell Processing,Tokyo Women's Medical University,Tokyo,Japan
,
Yoshio Okamoto
Affiliations:
Transfusion Medicine and Cell Processing,Tokyo Women's Medical University,Tokyo,Japan
,
Takahiro Kawakami
Affiliations:
Transfusion Medicine and Cell Processing,Tokyo Women's Medical University,Tokyo,Japan
,
Toshiyuki Yamamoto
Affiliations:
Genome Medicine,Tokyo Women's Medical University,Tokyo,Japan
Hitoshi Kanno
Affiliations:
Transfusion Medicine and Cell Processing,Tokyo Women's Medical University,Tokyo,Japan
EHA Library. Howard J. Jun 15, 2019; 266819; PS1202
J Howard
J Howard
Contributions
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Abstract

Abstract: PS1202

Type: Poster Presentation

Presentation during EHA24: On Saturday, June 15, 2019 from 17:30 - 19:00

Location: Poster area

Background
As a reference center, we analyze erythrocyte membranes, enzymes, and hemoglobin for congenital hemolytic anemia (CHA) in cases that are not diagnosed using ordinary laboratory examinations, and we introduce genetic testing using a hemolytic anemia-related gene panel. We analyzed 136 cases from 2016 to 2017, including 36 patients under 1 year of age and 100 patients aged 1 year and over. Consequently, a definitive diagnosis was obtained for 84% of patients aged 1 and over but for only 72% of patients under 1 year of age.

Aims
We aimed to summarize the final diagnosis for hemolytic anemia in patients less than 1 year of age analyzed over 3 years from 2016 to 2018  and discuss the common clinical features and laboratory data of undiagnosed cases.

Methods
We analyzed 58 infantile CHA casesusing the following laboratory tests: flow-cytometric osmotic fragility (FCM-OF) test, eosin 5’-maleimide  binding test, assay of 15 red blood cell (RBC) enzymes, reduced glutathione content, and isopropanol stability test for unstable hemoglobinopathy. For the cases with a difficult diagnosis, genetic analysis with target-captured sequencing (TCS) using a gene panel of 74 genes related to CHA was carried out.

Results
Among 58 infants with CHA, we diagnosed 30 cases (52%); there were 18 cases of hereditary spherocytosis (HS), 2 cases of hereditary elliptocytosis (HE), 1 case of hereditary pyropoikilocytosis, 4 cases of erythro-enzymopathies, and 2 cases of unstable hemoglobinopathies. Among the 28 undiagnosed cases, 14 showed an elevated percentage of residual RBCs in the FCM-OF test. These cases also showed abnormal RBC morphologies such as target cells, stomatocytes, and/or pyknocytes. We performed TCS for 4 of the 14 cases, but none harbored mutations such as PIEZO1 or KCNN4. Of the 7 cases, which could be followed up to at the age of one year, all recovered from CHA within a year.

Conclusion
Mild hemolytic anemia accompanied by stomatocytes and/or target cells is a typical clinical feature of dehydrated hereditary stomatocytosis (DHSt) in adults. We previously showed that FCM-OF clearly discriminated DHSt from HS or HE (Utsugisawa et al., Blood 2017;130:929). In this study, approximately half of the infants with undiagnosed CHA showed similar RBC morphology and higher osmotic resistance with no causative gene mutations. We noticed that clinical pictures of these infants resembled the description of infantile pyknocytosis (IP), which is a transient neonatal hemolytic anemia with the characteristic RBC morphology. As IP cases follow a relatively benign clinical course, we propose that FCM-OF may be used as a biomarker for the tentative diagnosis of IP.

Session topic: 28. Enzymopathies, membranopathies and other anemias

Keyword(s): Hemolytic anemia

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