Haemoglobin Bart’s and H in a Swedish Boy

Sjölin, Stig; Wallenius, G; Wranne, L

doi:10.1159/000209592

Cited by 10 publications

(5 citation statements)

References 7 publications

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“…Whereas the inheritance patterns as observed in the other affected families are similar to those previously reported (Weatherall 1965), the observation of haemoglobin-H disease in a subject with normal parents is to be considered very peculiar since only one similar case has been described in an infant of Swedish ancestry (Sjolin et al 1964). Unlike that case, our patient showed no signs of congenital malformation, oedema, ascites, respiratory distress or marked liver and spleen enlargement.…”

Section: Discussionsupporting

confidence: 88%

“…We suggest as a temptative hypothesis that homozygosity for the milder cY-thal.2 gene may occasionally have a more severe expression leading to an evident depression of the a-chain synthesis. This would explain the presence of haemoglobin Bart's in the neonatal peried in a number of healthy infants and the occurrence of haemoglobin-H disease in subjects with normal parents as observed in the case described by Sjolin (1964) and in our patient.…”

Section: Discussionsupporting

confidence: 74%

See 1 more Smart Citation

Unusual Pattern of Inheritance of Haemoglobin‐H Disease

Alessio

Sulis

Pabis

et al. 1968

Scandinavian Journal of Haematology

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Section: Discussionsupporting

confidence: 88%

Section: Discussionsupporting

confidence: 74%

Unusual Pattern of Inheritance of Haemoglobin‐H Disease

Alessio

Sulis

Pabis

et al. 1968

Scandinavian Journal of Haematology

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“… The most common features of ATR‐16 are listed. Because there are many individual case reports, and because some patients are reported more than once, several references are cited in column 1 (at left) [Sjoelin et al, 1964; Ronisch and Kleihauer, 1967; Borochovitz et al, 1970; Weatherall et al, 1981; Vives Corrons et al, 1983; Bowcock et al, 1984; Felice et al, 1984; Hutz et al, 1986; Buckle et al, 1988; Lamb et al, 1989; Wilkie et al, 1990; Fei et al, 1992; Rack et al, 1993; Waye et al, 1995; Daniels et al, 2001; EPKDC, 2001]. Information in parentheses includes the case designation (in older reports, often the patient's initials) as well as the approximate age at time of last report (y = years, m = months).…”

Section: Discussionmentioning

confidence: 99%

Phenotype–genotype characterization of alpha‐thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3

Gibson

Harvard

Qiao

et al. 2007

American J of Med Genetics Pt A

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An 8-year-old Caucasian girl presented with mild dysmorphic features and intellectual disability (ID) affecting multiple spheres. Dysmorphisms included a high forehead with up-slanting palpebral fissures, prominent nasal root and bridge, flattened maxilla, high-arched palate, and anterior frenulum. Structural brain anomalies included reduced periventricular white matter volume and thin corpus callosum. The presence of HbH bodies and her clinical presentation raised suspicion for autosomal alpha-thalassemia mental retardation syndrome (ATR-16). Whole-genome array analysis at 1 Mb resolution was performed, which revealed a sub-microscopic loss of 16p involving clones RP11-344L6 at 0.1 Mb, RP1-121I4 at 0.2 Mb and RP11-334D3 at 1 Mb. FISH confirmed deletion (del) of the terminal clone (RP1-121I4) on 16pter, which was de novo in origin. The more proximal clone RP11-334D3 (at 1 Mb) showed diminished FISH signal intensity on one of the homologues, suggesting that one breakpoint occurred within this clone. Quantitative PCR (qPCR) confirmed a de novo deletion encompassing SOX8 (at 0.97 Mb). ATR-16 is characterized by ID with mild, nonspecific dysmorphic features, and is associated with terminal del16p (MIM No. 141750). Cases of isolated monosomy for 16p are rarely described; such descriptions help to delineate the syndrome in the absence of confounding karyotypic anomalies. We describe detailed molecular cytogenetic and clinical findings relating to a subject with ATR-16.

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“…H b Zurich can be excluded, as our patients show a permanent haemolysis without any known aggravation in connection with the administration of sulphonamide. Hb H, which was earlier reported from Sweden (Hedenberg et al 1958, Hansen et al 1960, Sjolin et al 1964) can also be excluded as this haemoglobin is fast-moving.…”

Section: Discussionmentioning

confidence: 69%

A Swedish Family with Haemolytic Anaemia, Heinz Bodies and an Abnormal Haemoglobin

Svensson

Strand

1967

Scandinavian Journal of Haematology

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A hereditary, haemolytic anaemia with Heinz‐body production has been found in four members of a Swedish family, presenting an abnormal haemoglobin according to various electrophoretic methods. Clinical and laboratory data indicate that this disease belongs to the group of Heinz‐body producing haemoglobinopathies. There are certain differences from related types of haemoglobinopathies, e.g. in terms of electrophoretic mobility and methaemoglobin production. Apparently this type of haemoglobin‐defect has not previously been described, for which reason we suggest the designation Haemoglobin Borås.

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Haemoglobin Bart’s and H in a Swedish Boy

Cited by 10 publications

References 7 publications

Unusual Pattern of Inheritance of Haemoglobin‐H Disease

Unusual Pattern of Inheritance of Haemoglobin‐H Disease

Phenotype–genotype characterization of alpha‐thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3

A Swedish Family with Haemolytic Anaemia, Heinz Bodies and an Abnormal Haemoglobin

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