Hereditary Heinz-body Anaemia, Thrombocyttopenia, and Haemoglobinopathy (Hb Koln) in a Glasgow Family

Hutchison, H. E.; Pinkerton, P. H.; Waters, Patricia; Douglas, A. S.; Lehmann, H.; Beale, D.

doi:10.1136/bmj.2.5417.1099

Cited by 58 publications

(21 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Because of thc presence of an abnormal haemoglobin fraction, the cases we are presenting hcrc are very similar to the ones described by Scott et al (1960) and the patients with haemoglobin Koln reported by Pribilla (1962) and Hutchison et al (1964)~ with the differences, however, that thc increased haemoglobin Az percentages found by Hutchison et al are not found in our cases. The electrophoretic mobility and the fingerprint of the abnormal hacmoglobin found in our family are different from that of haemoglobin Koh.…”

Section: Discussionsupporting

confidence: 89%

See 1 more Smart Citation

Familial Haemolytic Anaemia with Erythrocyte Inclusion Bodies, Bilifuscinuria and Abnormal Haemoglobin (Haemoglobin Galliera Genova)

G¹,

Pik²

1965

Br J Haematol

View full text Add to dashboard Cite

From the heterogeneous group of the non‐spherocytic haemolytic anaemias a new clinical and haematological entity has been isolated in recent years in which the presence of red‐cell inclusion bodies and the excretion of dark brown urine are associated with the characteristics commonly observed in all chronic haemolytic processes. In 1952 Cathie described what may be the first case in medical literature. He noted the remarkable finding of apparently spontaneous Heinz bodies in the erythrocytes of an infant after splenectomy. Later on a new characteristic was added to the pattern of the disease, the identification of dipyrrolic mesobilifuscin in the urine (Schmid, Brecher and Clemens, 1959), and more recently an abnormal haemoglobin fraction was detected (Scott, Haut, Cartwright and Wintrobe, 1960). Up to now less than ten cases have been reported. The subject has been briefly and clearly reviewed by Schmid (1961). We had the opportunity of studying an Italian family in which the mother and the only daughter were affected by the disease. It was fortunate for our study that only the mother had been splenectomized; we could, therefore, compare the haematological findings in a splenectomized and in a non‐splenectomized case. The finding of an abnormal haemoglobin component makes our observation similar to those of Scott et al. (1960), Pribilla (1962) and Hutchison, Pinkerton, Waters, Douglas, Lehmann and Beale (1964).

show abstract

Section: Discussionsupporting

confidence: 89%

“…The finding of an abnormal haemoglobin component makes our observation similar to those of Scott et nl. (1960), Pribilla (1962) and Hutchison, Pinkerton, Waters, Douglas, Lehmann and Beale (1964).…”

mentioning

confidence: 99%

Familial Haemolytic Anaemia with Erythrocyte Inclusion Bodies, Bilifuscinuria and Abnormal Haemoglobin (Haemoglobin Galliera Genova)

G¹,

Pik²

1965

Br J Haematol

View full text Add to dashboard Cite

show abstract

“…This has also been observed in occasional cases with Haemoglobin Koln (Hutchison et al, 1964;Jackson et al, 1967).…”

Section: Discussionsupporting

confidence: 59%

Congenital Heinz-body haemolytic anaemia due to haemoglobin Hammersmith

Shinton

Williams

Thursby-Pelham

1969

Postgraduate Medical Journal

View full text Add to dashboard Cite

“…Increased glutathione reductase activity, as reported by Hutchison et al (1964) and Jackson, Way, and Woodliff (1967), was also found in our patient and his 2 sisters. A lower level of glutathione along with increased glutathione reductase activity were thought to be due to an increased utilization of reduced glutathione.…”

Section: Discussionsupporting

confidence: 91%

Unstable haemoglobin Koln disease in members of a Malay family.

Eng¹,

Lopez²,

Eapen³

et al. 1972

Journal of Medical Genetics

View full text Add to dashboard Cite

In this paper we report this condition in 3 members of a Malay family. The unstable haemoglobin is structurally identical with Hb Koin first described by Pribilla (1962). We also report the results of enzyme studies of their red blood cells. MethodsHaematological examinations were made by standard methods. Haemolysates were prepared from washed red blood cells by the addition of 1 vol water and 04 to 0 5 vol toluene. Haemoglobin electrophoresis was carried out in starch gel with tris-EDTA boric acid buffer at pH 8-0 and 8-6 and discontinuous tris-boric acid buffer at pH 9-5; agar gel electrophoresis, with citric acid buffer pH 6-2, and cellulose-acetate electrophoresis with

show abstract

Hereditary Heinz-body Anaemia, Thrombocyttopenia, and Haemoglobinopathy (Hb Koln) in a Glasgow Family

Cited by 58 publications

References 20 publications

Familial Haemolytic Anaemia with Erythrocyte Inclusion Bodies, Bilifuscinuria and Abnormal Haemoglobin (Haemoglobin Galliera Genova)

Familial Haemolytic Anaemia with Erythrocyte Inclusion Bodies, Bilifuscinuria and Abnormal Haemoglobin (Haemoglobin Galliera Genova)

Congenital Heinz-body haemolytic anaemia due to haemoglobin Hammersmith

Unstable haemoglobin Koln disease in members of a Malay family.

Contact Info

Product

Resources

About