Blisters, bite marks, irregular contraction of red blood cells, hydrangeas, a blood slide to see the whole ....

01

Preface

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a kind of X-linked incomplete dominant genetic disease, because the consumption of fava beans can cause the onset of G6PD deficiency patients, so it is commonly known as "fava bean disease"
.

02

Case passed

Boy, 1 year and 4 months, body temperature 37.

Admission test results: WBC 16.

The blood smear microscopy is as follows

Figure 1 The arrows in the figure refer to blister red blood cells

Figure 2 The arrow in the figure refers to bite red blood cells

Figure 3 The arrows in the figure refer to irregularly contracted red blood cells

Figure 4 The arrows in the figure refer to small bodies of hynesthes

03

Case studies

The child has an anemia face, de-soy sauce color urine, urine occult blood 3+, but no red blood cells are seen under the microscope; elevated reticulocytes; High LDH content in erythrocytes, red blood cell destruction leads to a significant increase in LDH, LDH vitality is basically reflected by α-HBDH, such as hemolysis both will be simultaneously increased, total bilirubin rises, combined with the above results suggest the presence of hemolysis, children G6PD activity is reduced, unconsumed fava beans and related products and fava bean disease banned drugs and cautionary medication, white blood cells, hsCRP, procalcitonin rise, indicating infection, acute onset, short course of disease, This may result in infection precipitating an episode of acute hemolysis
in patients with G6PD deficiency.

Combined with the relevant examination results, the clinical diagnosis: 1.

Blister red blood cells, bite mark red blood cells, irregular contraction of red blood cells, and visible hyinoids in the blood slides of the child; After reviewing the literature, the simultaneous appearance of blister erythrocytes, bite mark red blood cells, irregular contraction of red blood cells and heinaceous bodies in acute hemolytic xyloids caused by G6PD deficiency patients is rarely reported, and the appearance of these abnormal red blood cells and heinosomes is common in acute hemolysis caused by G6PD deficiency; It has been reported that patients with G6PD deficiency who are partially due to acute hemolysis due to G6PD deficiency have normal activity detection [^2,3], and the diagnosis of G6PD deficiency is more meaningful when the above characteristic erythrocyte morphology is present in the blood slide at the same time ^[4,5].

After blood transfusion and anti-infective therapy, WBC, PCT, hcCRP, RBC, HGB, RET gradually returned to normal and finally recovered and was discharged from the hospital
.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder in which the production of reduced nicotinamide adenine dinucleotide phosphoric acid (NADPH), a coenzyme of glutathione reductase in the erythrocyte pentose phosphate pathway, is due to a deficiency in the G6PD deficiency of the red blood cell membrane, which ultimately leads to the destruction of red blood cells and hemolysis ^[6].

The clinical manifestations of patients with G6PD deficiency vary greatly, most patients can be asymptomatic for life, in the absence of disease, the disease usually does not affect life and quality of life, some patients in food, drugs, infections induce G6PD deficiency episodes of acute hemolytic anemia
.

Table 1 Contraindicated drugs for G6PD deficiency and some drugs used with caution^[6].

04

Case summary

G6PD deficiency cannot be cured, and the disease focuses on prevention, avoid eating fava beans and their products, avoid contact with daily necessities such as camphor, and especially avoid the use of banned and cautious oxidizing drugs (see Table 1).

For patients with acute hemolysis, in the case of unknown whether the patient is G6PD deficiency or G6PD activity is normal, blister erythrocytes, biting red blood cells, irregular contraction of red blood cells and hinemites in the blood slide should be timely and clinically communicated and given hints to avoid missed diagnosis and misdiagnosis
.

[References]

[1] Inter-laboratory Quality Assessment Committee of Neonatal Disease Screening of Clinical Laboratory of National Health Commission.

Zheng Jie.

Wu Zhidan, Zhang Ting.

Zhu Jianfeng,Pan Baishen.

[5] Xiangjun Ye, Xingguo Lu.
Introduction to the Standardization Recommendations for the Naming and Grading of Peripheral Blood Cell Morphological Characteristics of ICSH in 2015[J].
Journal of Clinical Laboratory,2016,04:296-299.

[6] Neonatal Screening Group of Birth Defect Prevention and Control Professional Committee of Chinese Preventive Medicine Association, Clinical Biochemical Genetics Professional Committee of Medical Geneticist Branch of Chinese Medical Doctor Association, Clinical Genetics Group of Adolescence Medical Professional Committee of Chinese Medical Doctor Association.
Expert consensus on screening, diagnosis and treatment of newborns with glucose-6-phosphate dehydrogenase deficiency.
Chinese Journal of Pediatrics,2017,55(06):411-414.