<?xml version="1.0" encoding="UTF-8"?>
<STUDY_SET xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
  <STUDY center_name="BioProject" alias="PRJNA1081482" accession="SRP492136">
    <IDENTIFIERS>
      <PRIMARY_ID>SRP492136</PRIMARY_ID>
      <EXTERNAL_ID namespace="BioProject" label="primary">PRJNA1081482</EXTERNAL_ID>
    </IDENTIFIERS>
    <DESCRIPTOR>
      <STUDY_TITLE>Hb anti-Lepore HongKong</STUDY_TITLE>
      <STUDY_TYPE existing_study_type="Other"/>
      <STUDY_ABSTRACT>Abnormal hemoglobin anti-Lepore Hong Kong is a rare fusion variants resulting from non-homologous crossover during meiosis. Anti-Lepore Hong Kong is known to consistently exhibit significantly increased level of HbA2. In this study, we used multiplex ligation-dependent probe amplification (MLPA) and single molecular real-time (SMRT) sequencing, as well as Sanger sequencing, to identify variants in five unrelated families with abnormal elevated HbA2 level.</STUDY_ABSTRACT>
    </DESCRIPTOR>
  </STUDY>
</STUDY_SET>
