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Biomedical subjects

H Lehmann

Publications and source records attributed to H Lehmann.

At least 271 records · Page 15Linked to original sources
PubMed1975

Hereditary persistence of fetal hemoglobin, beta thalassemia, and the hemoglobin delta-beta locus: further family data and genetic interpretations.

Three Negro kindreds with hereditary persistence of fetal hemoglobin (HPFH) alone and in combination with various other hemoglobin abnormalities including beta thalassemia are presented. Among 11 offspring of two women heterozygous for both HPFH and the delta chain mutation Hb B2, five inherited the HPFH gene and six inherited the Hb B2 gene. In another kindred, a man inferred to be heterozygous for both HPFH and Hb C had six children; three offsprivg obtained the Hb C gene and three the HPFH gene. Similarly, a woman heterozygous for both Hb S and HPFH transmitted the Hb S gene to one of her two children and the HPFH gene to the other. Thus among 19 offspring, no crossovers between the HPFH locus or the Hb delta-beta locus were observed. These and earlier data are compatible with deletion of the Hb beta and delta loci as the primary event to explain the genetic origin of HPFH. Genetic considerations indicate that the finding of a single person with a hematologically normal phenotype among offspring of heterozygotes for both the African type of HPFH and a Hb beta or Hb delta structural abnormality would invalidate the deletion model.

Adolescent↗
PubMed1975

Globin synthesis in subjects doubly heterozygous for hemoglobin G-Philadelphia and hemoglobin S or C.

To study the function of globin-chain genes, in vitro synthesis of globin was measured in reticulocytes concentrated from the peripheral blood of 7 subjects doubly heterozygous for an alpha-chain abnormality (Hb G-Philadelphia) and a beta-chain abnormality (Hb S or C). Each had a deficit of alpha-chain synthesis compatible with an alpha-thalassemia-like syndrome. The data are also compatible with the quantitative expression of variable reduplication of the alpha-chain locus in man.

Black or African American↗
PubMed1975

Ectopical kidney tissue in the left auricle of a rat.

A case of a 3 months old rat with ectopic renal tissue within the heart was described. The renal tissue consisted of well developed parts of the kidney cortex like glomerula and tubuli contorti. All parts of the kidney medulla such as excretory tubules and kidney pelvis were missing. It is believed that the ectopic kidney tissue developed from scattering of metanephric tissue. A physiological function of the intracardial renal tissue can be excluded.

Animals↗
PubMed1975

[Studies on the incidence and clinical importance of the valve independent, arrested hydrocephalus (author's transl)].

Between 1964 and 1974 193 infants up to the age of 2 years were treated for progressive hydrocephalus by means of a ventriculo-atrial shunt. Long term follow-up studies were possible on 148 children. Among these 94 have functioning and 54 non-functioning valves. The criteria for the non-function were based on either plain X-rays of the skull and thorax (disconnection of the catheters, distal end of the cardiac catheter above D 2), direct punctures of the antichamber and contrast medium studies of the diversional system. 35 children with non-functioning valves were normal in their mental and motor development, 9 were retarded according to their primary brain damage, 10 patients showed signs of chronic increased intracranial pressure. These results suggest, that about one fourth of the valve treated patients develop a state of valve independency.

Cerebrospinal Fluid Shunts↗
PubMed1975

Hemoglobin O Arabia. Considerations on the first nine cases discovered in Romania.

The results obtained by investigations in three Romanian families with HbO Arabia are reported. The presence of this type of hemoglobin was ascertained by clinical, hematological and biochemical examinations. The classification was made on the basis of the structural analysis (fingerprinting and aminoacid analysis). Of the nine cases reported, seven were heterozygotic forms showing no hematological alterations or clinical signs of disease. Two cases were doubly heterozygotic, HbO Arabia associated to beta-thalassemia, showing also alterations of the hematological pattern and clinical signs of hemolytic anemia.

Adolescent↗
PubMed1974

Haemoglobin Belfast 15 (A12) tryptophan leading to arginine: a new unstable haemoglobin variant.

A new unstable haemoglobin, alpha(2)beta(2)15 Trp--> Arg (Hb Belfast), with increased oxygen affinity has been found during the routine investigation of a long-stay psychiatric patient. It seemed to cause little haematological disorder. The reticulocytes synthesized normal and abnormal beta-chains at the same rate but in the circulating blood Hb Belfast amounted to only 27.5% of the total haemoglobin.

Adult↗
PubMed1974

Public health and genetic constitution of the San ("Bushmen"): carbohydrate metabolism and acetylator status of the Kung of Tsumkwe in the North-western Kalahari.

Intolerance to lactose owing to deficiency of lactase is particularly prevalent among non-Caucasian peoples. Special caution is therefore needed in offering them milk supplements. Lactose tolerance has been investigated among the!Kung in the north-western Kalahari. The opportunity was taken also to examine their acetylator status, as this affects their ability to detoxicate drugs given for the treatment of tuberculosis and other diseases.The preliminary studies reported here suggest that not more than 10% of the!Kung are tolerant to lactose, but only one person out of 30 was a slow acetylator.

Acetylation↗