Hb H hydrops foetalis syndrome: a case report and review of literature
Haemoglobin H (Hb H) disease is caused by deletion or inactivation of three α‐globin genes, leaving only one intact and active α‐globin gene. People with Hb H disease usually have moderate anaemia, but are generally thought to be asymptomatic. Some Hb H disease patients require transfusions, and the...
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creator | Lorey, Fred Charoenkwan, Pimlak Witkowska, H. Ewa Lafferty, John Patterson, Margaret Eng, Barry Waye, John S. Finklestein, Jerry Z. Chui, David H. K. |
description | Haemoglobin H (Hb H) disease is caused by deletion or inactivation of three α‐globin genes, leaving only one intact and active α‐globin gene. People with Hb H disease usually have moderate anaemia, but are generally thought to be asymptomatic. Some Hb H disease patients require transfusions, and there are reports of fetuses with Hb H disease who have severe anaemia in utero resulting in fatal hydrops foetalis syndrome. We now report a case of Hb H hydrops foetalis syndrome, caused by the inheritance of a hitherto novel α‐globin gene point mutation (codon 35 TCC→CCC or Serine→Proline) and an α‐thalassaemia deletion of the Filipino type removing all ζ‐α‐globin genes on the other chromosome 16. The infant was delivered prematurely because of pericardial effusion and fetal distress, and was found to have severe anaemia and congenital anomalies. A review of the relevant literature on this syndrome is presented, and serves to underscore the phenotypic variations of Hb H disease and the need for surveillance for this condition among newborns and genetic counselling in communities with a high proportion of at‐risk populations. |
doi_str_mv | 10.1046/j.1365-2141.2001.03080.x |
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Ewa ; Lafferty, John ; Patterson, Margaret ; Eng, Barry ; Waye, John S. ; Finklestein, Jerry Z. ; Chui, David H. K.</creator><creatorcontrib>Lorey, Fred ; Charoenkwan, Pimlak ; Witkowska, H. Ewa ; Lafferty, John ; Patterson, Margaret ; Eng, Barry ; Waye, John S. ; Finklestein, Jerry Z. ; Chui, David H. K.</creatorcontrib><description>Haemoglobin H (Hb H) disease is caused by deletion or inactivation of three α‐globin genes, leaving only one intact and active α‐globin gene. People with Hb H disease usually have moderate anaemia, but are generally thought to be asymptomatic. Some Hb H disease patients require transfusions, and there are reports of fetuses with Hb H disease who have severe anaemia in utero resulting in fatal hydrops foetalis syndrome. We now report a case of Hb H hydrops foetalis syndrome, caused by the inheritance of a hitherto novel α‐globin gene point mutation (codon 35 TCC→CCC or Serine→Proline) and an α‐thalassaemia deletion of the Filipino type removing all ζ‐α‐globin genes on the other chromosome 16. The infant was delivered prematurely because of pericardial effusion and fetal distress, and was found to have severe anaemia and congenital anomalies. A review of the relevant literature on this syndrome is presented, and serves to underscore the phenotypic variations of Hb H disease and the need for surveillance for this condition among newborns and genetic counselling in communities with a high proportion of at‐risk populations.</description><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1046/j.1365-2141.2001.03080.x</identifier><identifier>PMID: 11722414</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Science Ltd</publisher><subject>alpha-Thalassemia - complications ; alpha-Thalassemia - diagnosis ; alpha-Thalassemia - genetics ; alpha‐thalassaemia ; ambiguous genitalia ; Anemias. Hemoglobinopathies ; Base Sequence ; Biological and medical sciences ; Codon ; Diseases of mother, fetus and pregnancy ; Diseases of red blood cells ; Gene Deletion ; Genitalia - abnormalities ; Globins - genetics ; Gynecology. Andrology. Obstetrics ; Hb H disease ; Hematologic and hematopoietic diseases ; Hematology ; Heterozygote ; Humans ; Hydrops Fetalis - complications ; Hydrops Fetalis - genetics ; hydrops foetalis ; Infant, Newborn ; Male ; Medical sciences ; Molecular Sequence Data ; Neonatal Screening ; Pedigree ; Point Mutation ; Pregnancy. Fetus. Placenta ; Syndrome ; unstable haemoglobin</subject><ispartof>British journal of haematology, 2001-10, Vol.115 (1), p.72-78</ispartof><rights>2002 INIST-CNRS</rights><rights>Copyright Blackwell Scientific Publications Ltd. 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Ewa</creatorcontrib><creatorcontrib>Lafferty, John</creatorcontrib><creatorcontrib>Patterson, Margaret</creatorcontrib><creatorcontrib>Eng, Barry</creatorcontrib><creatorcontrib>Waye, John S.</creatorcontrib><creatorcontrib>Finklestein, Jerry Z.</creatorcontrib><creatorcontrib>Chui, David H. K.</creatorcontrib><title>Hb H hydrops foetalis syndrome: a case report and review of literature</title><title>British journal of haematology</title><addtitle>Br J Haematol</addtitle><description>Haemoglobin H (Hb H) disease is caused by deletion or inactivation of three α‐globin genes, leaving only one intact and active α‐globin gene. People with Hb H disease usually have moderate anaemia, but are generally thought to be asymptomatic. Some Hb H disease patients require transfusions, and there are reports of fetuses with Hb H disease who have severe anaemia in utero resulting in fatal hydrops foetalis syndrome. We now report a case of Hb H hydrops foetalis syndrome, caused by the inheritance of a hitherto novel α‐globin gene point mutation (codon 35 TCC→CCC or Serine→Proline) and an α‐thalassaemia deletion of the Filipino type removing all ζ‐α‐globin genes on the other chromosome 16. The infant was delivered prematurely because of pericardial effusion and fetal distress, and was found to have severe anaemia and congenital anomalies. A review of the relevant literature on this syndrome is presented, and serves to underscore the phenotypic variations of Hb H disease and the need for surveillance for this condition among newborns and genetic counselling in communities with a high proportion of at‐risk populations.</description><subject>alpha-Thalassemia - complications</subject><subject>alpha-Thalassemia - diagnosis</subject><subject>alpha-Thalassemia - genetics</subject><subject>alpha‐thalassaemia</subject><subject>ambiguous genitalia</subject><subject>Anemias. Hemoglobinopathies</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Codon</subject><subject>Diseases of mother, fetus and pregnancy</subject><subject>Diseases of red blood cells</subject><subject>Gene Deletion</subject><subject>Genitalia - abnormalities</subject><subject>Globins - genetics</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Hb H disease</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hematology</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Hydrops Fetalis - complications</subject><subject>Hydrops Fetalis - genetics</subject><subject>hydrops foetalis</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Neonatal Screening</subject><subject>Pedigree</subject><subject>Point Mutation</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Syndrome</subject><subject>unstable haemoglobin</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkMFO3DAQhi1EBVvoKyALCW5JZxwnTir1AKiwrZB6oWfLsSciq2yy2Amwb4_TXRWJUw-WR_b3z4w-xjhCiiCLr6sUsyJPBEpMBQCmkEEJ6esBW_z7OGQLAFBJDJTH7HMIqwhmkOMRO0ZUQkiUC3a7rPmSP26dHzaBNwONpmsDD9s-vqzpGzfcmkDc02bwIze9i-VzSy98aHjXjuTNOHk6ZZ8a0wX6sr9P2J_bHw83y-T-993Pm6v7xEolILEOytrlpY3HQVPJulDCKSGLQlRkCQGEcJXIpEXZmMqq2llpqFIonKU8O2GXu74bPzxNFEa9boOlrjM9DVPQSmSg4qgInn8AV8Pk-7ibxqrMK8gURqjcQdYPIXhq9Ma3a-O3GkHPovVKzz717FPPovVf0fo1Rs_2_ad6Te49uDcbgYs9YII1XeNNb9vwzkkUIKSK3Pcd99J2tP3vBfT1r-VcZW9J_Zch</recordid><startdate>200110</startdate><enddate>200110</enddate><creator>Lorey, Fred</creator><creator>Charoenkwan, Pimlak</creator><creator>Witkowska, H. 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Obstetrics</topic><topic>Hb H disease</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hematology</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Hydrops Fetalis - complications</topic><topic>Hydrops Fetalis - genetics</topic><topic>hydrops foetalis</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>Neonatal Screening</topic><topic>Pedigree</topic><topic>Point Mutation</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Syndrome</topic><topic>unstable haemoglobin</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lorey, Fred</creatorcontrib><creatorcontrib>Charoenkwan, Pimlak</creatorcontrib><creatorcontrib>Witkowska, H. Ewa</creatorcontrib><creatorcontrib>Lafferty, John</creatorcontrib><creatorcontrib>Patterson, Margaret</creatorcontrib><creatorcontrib>Eng, Barry</creatorcontrib><creatorcontrib>Waye, John S.</creatorcontrib><creatorcontrib>Finklestein, Jerry Z.</creatorcontrib><creatorcontrib>Chui, David H. K.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>British journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lorey, Fred</au><au>Charoenkwan, Pimlak</au><au>Witkowska, H. Ewa</au><au>Lafferty, John</au><au>Patterson, Margaret</au><au>Eng, Barry</au><au>Waye, John S.</au><au>Finklestein, Jerry Z.</au><au>Chui, David H. K.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hb H hydrops foetalis syndrome: a case report and review of literature</atitle><jtitle>British journal of haematology</jtitle><addtitle>Br J Haematol</addtitle><date>2001-10</date><risdate>2001</risdate><volume>115</volume><issue>1</issue><spage>72</spage><epage>78</epage><pages>72-78</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><coden>BJHEAL</coden><abstract>Haemoglobin H (Hb H) disease is caused by deletion or inactivation of three α‐globin genes, leaving only one intact and active α‐globin gene. People with Hb H disease usually have moderate anaemia, but are generally thought to be asymptomatic. Some Hb H disease patients require transfusions, and there are reports of fetuses with Hb H disease who have severe anaemia in utero resulting in fatal hydrops foetalis syndrome. We now report a case of Hb H hydrops foetalis syndrome, caused by the inheritance of a hitherto novel α‐globin gene point mutation (codon 35 TCC→CCC or Serine→Proline) and an α‐thalassaemia deletion of the Filipino type removing all ζ‐α‐globin genes on the other chromosome 16. The infant was delivered prematurely because of pericardial effusion and fetal distress, and was found to have severe anaemia and congenital anomalies. A review of the relevant literature on this syndrome is presented, and serves to underscore the phenotypic variations of Hb H disease and the need for surveillance for this condition among newborns and genetic counselling in communities with a high proportion of at‐risk populations.</abstract><cop>Oxford, UK</cop><pub>Blackwell Science Ltd</pub><pmid>11722414</pmid><doi>10.1046/j.1365-2141.2001.03080.x</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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subjects | alpha-Thalassemia - complications alpha-Thalassemia - diagnosis alpha-Thalassemia - genetics alpha‐thalassaemia ambiguous genitalia Anemias. Hemoglobinopathies Base Sequence Biological and medical sciences Codon Diseases of mother, fetus and pregnancy Diseases of red blood cells Gene Deletion Genitalia - abnormalities Globins - genetics Gynecology. Andrology. Obstetrics Hb H disease Hematologic and hematopoietic diseases Hematology Heterozygote Humans Hydrops Fetalis - complications Hydrops Fetalis - genetics hydrops foetalis Infant, Newborn Male Medical sciences Molecular Sequence Data Neonatal Screening Pedigree Point Mutation Pregnancy. Fetus. Placenta Syndrome unstable haemoglobin |
title | Hb H hydrops foetalis syndrome: a case report and review of literature |
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